Variant report

Variant	nsv558789
Chromosome Location	chr12:48368541-48376869
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr12:48375432-48375854	K562	blood:	n/a	n/a
2	CTCF	chr12:48373080-48373230	Caco-2	colon:	n/a	chr12:48373169-48373178 chr12:48373166-48373184 chr12:48373169-48373182
3	CTCF	chr12:48373060-48373210	K562	blood:	n/a	chr12:48373169-48373178 chr12:48373166-48373184 chr12:48373169-48373182
4	CTCF	chr12:48373152-48373182	K562	blood:	n/a	chr12:48373169-48373178 chr12:48373169-48373182
5	CTCF	chr12:48373085-48373209	HepG2	liver:	n/a	chr12:48373169-48373178 chr12:48373166-48373184 chr12:48373169-48373182
6	CTCF	chr12:48373111-48373213	Hela-S3	cervix:	n/a	chr12:48373169-48373178 chr12:48373166-48373184 chr12:48373169-48373182
7	CTCF	chr12:48373120-48373270	AG04449	skin:	n/a	chr12:48373169-48373178 chr12:48373166-48373184 chr12:48373169-48373182
8	CTCF	chr12:48373125-48373203	MCF-7	breast:	n/a	chr12:48373169-48373178 chr12:48373166-48373184 chr12:48373169-48373182
9	CTCF	chr12:48370640-48370790	HepG2	liver:	n/a	n/a
10	E2F6	chr12:48375566-48375687	K562	blood:	n/a	n/a
11	EGR1	chr12:48369829-48370058	K562	blood:	n/a	n/a
12	EGR1	chr12:48374016-48374223	K562	blood:	n/a	chr12:48374095-48374110 chr12:48374096-48374109 chr12:48374096-48374109 chr12:48374097-48374107
13	ELK1	chr12:48372194-48372328	Hela-S3	cervix:	n/a	n/a
14	FOXA1	chr12:48375125-48375521	HepG2	liver:	n/a	chr12:48375350-48375362
15	FOXA2	chr12:48375195-48375461	HepG2	liver:	n/a	chr12:48375350-48375362
16	HMGN3	chr12:48370804-48370825	K562	blood:	n/a	n/a
17	MAX	chr12:48375366-48375547	K562	blood:	n/a	n/a
18	MAX	chr12:48375316-48375824	K562	blood:	n/a	n/a
19	MAZ	chr12:48375219-48375307	HepG2	liver:	n/a	n/a
20	MAZ	chr12:48373128-48373232	K562	blood:	n/a	n/a
21	MAZ	chr12:48375404-48375523	K562	blood:	n/a	n/a
22	MYC	chr12:48371343-48371349	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr12:48375617-48375650	Gliobla	brain:	n/a	n/a
24	REST	chr12:48373089-48373329	K562	blood:	n/a	chr12:48373234-48373247
25	RFX5	chr12:48375191-48375203	HepG2	liver:	n/a	n/a
26	ZBTB7A	chr12:48375290-48375415	K562	blood:	n/a	n/a
27	ZNF263	chr12:48372682-48373169	HEK293-T-REx	kidney:	n/a	chr12:48372793-48372814 chr12:48372804-48372813
28	ZNF274	chr12:48372250-48372777	NT2-D1	testis:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:48375673-48375723	GM12891	blood:	n/a
2	chr12:48375673-48375723	PANC-1	pancreas:	n/a
3	chr12:48375673-48375723	ovcar-3	ovarian:	n/a
4	chr12:48375673-48375723	GM19239	blood:	n/a
5	chr12:48375673-48375723	HCT-116	colon:	n/a
6	chr12:48375673-48375723	A549	lung:	n/a
7	chr12:48375673-48375723	HUVEC	blood vessel:	n/a
8	chr12:48375673-48375723	HIPEpiC	eye:	n/a
9	chr12:48375673-48375723	AG09319	gingival:	n/a
10	chr12:48375673-48375723	SK-N-SH_RA	brain:	n/a
11	chr12:48375673-48375723	HRE	kidney:	n/a
12	chr12:48375673-48375723	HCPEpiC	choroid plexus:	n/a
13	chr12:48375673-48375723	BJ	skin:	n/a
14	chr12:48375673-48375723	Hepatocyte	liver:	n/a
15	chr12:48375673-48375723	SK-N-SH	brain:	n/a
16	chr12:48375673-48375723	AG09309	skin:	n/a
17	chr12:48375673-48375723	Jurkat	blood:	n/a
18	chr12:48375673-48375723	U87	brain:	n/a
19	chr12:48375673-48375723	PFSK-1	brain:	n/a
20	chr12:48375673-48375723	BE2_C	brain:	n/a
21	chr12:48375673-48375723	Caco-2	colon:	n/a
22	chr12:48375673-48375723	GM12878	blood:	n/a
23	chr12:48375673-48375723	CMK	blood:	n/a
24	chr12:48375673-48375723	HEEpiC	esophagus:	n/a
25	chr12:48375673-48375723	SK-N-MC	brain:	n/a
26	chr12:48375673-48375723	AG04450	lung:	fetal
27	chr12:48375673-48375723	NB4	blood:	n/a
28	chr12:48375673-48375723	AoSMC	blood vessel:	n/a
29	chr12:48375673-48375723	T-47D	breast:	n/a
30	chr12:48375673-48375723	NT2-D1	testis:	n/a
31	chr12:48375673-48375723	HRCEpiC	kidney:	n/a
32	chr12:48375673-48375723	GM12892	blood:	n/a
33	chr12:48375673-48375723	LNCaP	prostate:	n/a
34	chr12:48375673-48375723	HPAEpiC	pulmonary alveolar:	n/a
35	chr12:48375673-48375723	NHDF-neo	bronchial:	n/a
36	chr12:48375673-48375723	HAEpiC	amniotic membrane:	n/a
37	chr12:48375673-48375723	PrEC	prostate:	n/a
38	chr12:48375673-48375723	RPTEC	kidney:	n/a
39	chr12:48375673-48375723	MCF-7	breast:	n/a
40	chr12:48375673-48375723	HNPCEpiC	eye:	n/a
41	chr12:48375673-48375723	ECC-1	luminal epithelium:	n/a
42	chr12:48375673-48375723	HCF	heart:	n/a
43	chr12:48375673-48375723	NH-A	brain:	n/a
44	chr12:48375673-48375723	GM06990	blood:	n/a
45	chr12:48375673-48375723	NHBE	bronchial:	n/a
46	chr12:48375673-48375723	HEK293	kidney:	embryo
47	chr12:48375673-48375723	AG04449	skin:	fetal
48	chr12:48375673-48375723	IMR90	lung:	fetal
49	chr12:48375673-48375723	HRPEpiC	eye:	n/a
50	chr12:48375673-48375723	MCF10A-Er-Src	breast:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48375713..48377256-chr12:48377465..48379370,2	MCF-7	breast:
2	chr12:48246296..48248237-chr12:48373548..48375566,2	MCF-7	breast:
3	chr12:48293420..48296418-chr12:48372974..48374777,2	K562	blood:
4	chr12:48375228..48376777-chr12:48381596..48383195,2	MCF-7	breast:
5	chr12:48365132..48368005-chr12:48368353..48370036,2	K562	blood:
6	chr12:48373823..48376376-chr12:48383731..48387007,3	MCF-7	breast:
7	chr12:48366898..48369197-chr12:48592697..48594577,2	K562	blood:
8	chr12:48372717..48377052-chr12:48391617..48394178,3	MCF-7	breast:
9	chr12:48366900..48369507-chr12:48392554..48394762,2	MCF-7	breast:
10	chr12:48366493..48369414-chr12:48372046..48373592,2	K562	blood:
11	chr12:48370423..48373200-chr12:48373445..48376245,2	K562	blood:
12	chr12:48366493..48369414-chr12:48372046..48373592,2	K562	blood:
13	chr12:48262428..48264401-chr12:48374730..48377595,2	K562	blood:

No data

Variant related genes	Relation type
COL2A1	TF binding region
COL2A1	CpG island
ENSG00000139219	chromatin interactions

Extended variants
information (count: 509 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:509 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12721427	chr12:48368541-48368542	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs373464470	chr12:48368542-48368543	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577585827	chr12:48368563-48368564	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146035198	chr12:48368598-48368599	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs200005378	chr12:48368601-48368602	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564976657	chr12:48368610-48368611	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs121912887	chr12:48368618-48368619	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs556788032	chr12:48368634-48368635	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572863485	chr12:48368651-48368652	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs141265753	chr12:48368689-48368690	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542737134	chr12:48368755-48368756	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547340226	chr12:48368828-48368829	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs146235600	chr12:48368880-48368881	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs56932369	chr12:48368887-48368888	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs12721428	chr12:48368893-48368894	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs35693436	chr12:48368919-48368920	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs4760608	chr12:48368989-48368990	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs139627081	chr12:48368995-48368996	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs56196515	chr12:48369025-48369026	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs36087308	chr12:48369045-48369046	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs561122180	chr12:48369046-48369047	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs530173097	chr12:48369077-48369078	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546672421	chr12:48369100-48369101	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs139957398	chr12:48369116-48369117	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs142168567	chr12:48369159-48369160	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs369672046	chr12:48369160-48369161	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201635345	chr12:48369166-48369167	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs151185355	chr12:48369170-48369171	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs374360275	chr12:48369184-48369185	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs139114389	chr12:48369200-48369201	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs370247812	chr12:48369204-48369205	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs149903770	chr12:48369225-48369226	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs373684149	chr12:48369226-48369227	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs551400443	chr12:48369229-48369230	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs377079894	chr12:48369230-48369231	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs147569641	chr12:48369250-48369251	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs200993187	chr12:48369263-48369264	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs374082762	chr12:48369268-48369269	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs200136879	chr12:48369271-48369272	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs199726428	chr12:48369273-48369274	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368270799	chr12:48369279-48369280	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs141944722	chr12:48369287-48369288	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371974287	chr12:48369303-48369304	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs2276459	chr12:48369323-48369324	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs374450416	chr12:48369334-48369335	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs375710692	chr12:48369347-48369348	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs1635559	chr12:48369368-48369369	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs375342062	chr12:48369402-48369403	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs76104937	chr12:48369407-48369408	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs553076996	chr12:48369450-48369451	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21785460	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48358400-48369800	Weak transcription	Brain Angular Gyrus	brain
2	chr12:48358400-48373000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:48358600-48369400	Weak transcription	Fetal Kidney	kidney
4	chr12:48358600-48381400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:48359200-48384000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:48360200-48369600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:48362400-48370600	Weak transcription	HMEC	breast
8	chr12:48362400-48370800	Weak transcription	NHEK	skin
9	chr12:48363000-48368800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:48363000-48370800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:48363000-48370800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:48363200-48370800	Weak transcription	Fetal Stomach	stomach
13	chr12:48363400-48369000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:48363400-48370800	Weak transcription	Fetal Thymus	thymus
15	chr12:48363400-48374800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:48363400-48375000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:48363400-48375000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr12:48363400-48383000	Weak transcription	Spleen	Spleen
19	chr12:48364000-48370600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:48364400-48369800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:48364400-48371600	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:48364400-48372600	Strong transcription	Fetal Intestine Small	intestine
23	chr12:48364400-48381200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:48364600-48369800	Weak transcription	Placenta	Placenta
25	chr12:48365200-48381600	Weak transcription	Right Atrium	heart
26	chr12:48365400-48381000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:48366000-48370400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:48366200-48370600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:48366200-48381200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:48366200-48381400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:48366200-48381600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:48366600-48368800	Weak transcription	Thymus	Thymus
33	chr12:48366600-48375200	Weak transcription	Gastric	stomach
34	chr12:48366800-48374800	Weak transcription	HepG2	liver
35	chr12:48367800-48369600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr12:48368000-48369200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:48368200-48368600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:48368200-48373800	Weak transcription	Fetal Intestine Large	intestine
39	chr12:48368600-48368800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:48368800-48371400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:48369200-48369800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:48369600-48370400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr12:48369800-48370000	Enhancers	Placenta	Placenta
44	chr12:48369800-48372600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:48370000-48370400	Weak transcription	Placenta	Placenta
46	chr12:48370400-48371600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr12:48370400-48371800	Enhancers	Placenta	Placenta
48	chr12:48370400-48374800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:48370600-48370800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:48370600-48371000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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