Variant report

Variant	esv3415613
Chromosome Location	chr1:212581229-212584627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:212583560-212583710	HepG2	liver:	n/a	n/a
2	HNF4A	chr1:212583660-212583886	HepG2	liver:	n/a	chr1:212583778-212583793
3	JUND	chr1:212584316-212584436	HepG2	liver:	n/a	n/a
4	MAX	chr1:212583841-212584021	NB4	blood:	n/a	n/a
5	POLR2A	chr1:212583803-212583827	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:212584335-212584385	SK-N-MC	brain:	n/a
2	chr1:212584335-212584385	NB4	blood:	n/a
3	chr1:212584335-212584385	HNPCEpiC	eye:	n/a
4	chr1:212584335-212584385	SKMC	muscle:	n/a
5	chr1:212584335-212584385	GM06990	blood:	n/a
6	chr1:212584335-212584385	H1-hESC	embryonic stem cell:	embryo
7	chr1:212584335-212584385	MCF10A-Er-Src	breast:	n/a
8	chr1:212584335-212584385	HL-60	blood:	n/a
9	chr1:212584335-212584385	GM12892	blood:	n/a
10	chr1:212584335-212584385	ProgFib	skin:	n/a
11	chr1:212584335-212584385	ovcar-3	ovarian:	n/a
12	chr1:212584335-212584385	U87	brain:	n/a
13	chr1:212584335-212584385	NT2-D1	testis:	n/a
14	chr1:212584335-212584385	HepG2	liver:	n/a
15	chr1:212584335-212584385	Caco-2	colon:	n/a
16	chr1:212584335-212584385	AG04449	skin:	fetal
17	chr1:212584335-212584385	NHDF-neo	bronchial:	n/a
18	chr1:212584335-212584385	AG04450	lung:	fetal
19	chr1:212584335-212584385	HCPEpiC	choroid plexus:	n/a
20	chr1:212584335-212584385	GM12891	blood:	n/a
21	chr1:212584335-212584385	HUVEC	blood vessel:	n/a
22	chr1:212584335-212584385	AG09319	gingival:	n/a
23	chr1:212584335-212584385	SK-N-SH_RA	brain:	n/a
24	chr1:212584335-212584385	Hepatocyte	liver:	n/a
25	chr1:212584335-212584385	HRE	kidney:	n/a
26	chr1:212584335-212584385	MCF-7	breast:	n/a
27	chr1:212584335-212584385	BE2_C	brain:	n/a
28	chr1:212584335-212584385	A549	lung:	n/a
29	chr1:212584335-212584385	CMK	blood:	n/a
30	chr1:212584335-212584385	AoSMC	blood vessel:	n/a
31	chr1:212584335-212584385	AG09309	skin:	n/a
32	chr1:212584335-212584385	HRPEpiC	eye:	n/a
33	chr1:212584335-212584385	HCF	heart:	n/a
34	chr1:212584335-212584385	SK-N-SH	brain:	n/a
35	chr1:212584335-212584385	HEK293	kidney:	embryo
36	chr1:212584335-212584385	RPTEC	kidney:	n/a
37	chr1:212584335-212584385	IMR90	lung:	fetal
38	chr1:212584335-212584385	PANC-1	pancreas:	n/a
39	chr1:212584335-212584385	PrEC	prostate:	n/a
40	chr1:212584335-212584385	HEEpiC	esophagus:	n/a
41	chr1:212584335-212584385	GM19239	blood:	n/a
42	chr1:212584335-212584385	Jurkat	blood:	n/a
43	chr1:212584335-212584385	NH-A	brain:	n/a
44	chr1:212584335-212584385	T-47D	breast:	n/a
45	chr1:212584335-212584385	BJ	skin:	n/a
46	chr1:212584335-212584385	K562	blood:	n/a
47	chr1:212584335-212584385	PFSK-1	brain:	n/a
48	chr1:212584335-212584385	ECC-1	luminal epithelium:	n/a
49	chr1:212584335-212584385	SAEC	small airway:	n/a
50	chr1:212584335-212584385	GM12878	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212581574..212584496-chr1:212586803..212589409,2	MCF-7	breast:
2	chr1:212578826..212581261-chr1:212604877..212607699,2	K562	blood:
3	chr1:212570221..212572169-chr1:212580241..212582437,2	K562	blood:

No data

Variant related genes	Relation type
TMEM206	TF binding region
TMEM206	CpG island
ENSG00000117691	chromatin interactions
ENSG00000065600	chromatin interactions

Extended variants
information (count: 120 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547919835	chr1:212581232-212581233	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs566216137	chr1:212581292-212581293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533262267	chr1:212581391-212581392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77122055	chr1:212581430-212581431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372777660	chr1:212581433-212581434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566253127	chr1:212581451-212581452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528788599	chr1:212581463-212581464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538206829	chr1:212581474-212581475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116023152	chr1:212581495-212581496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183683363	chr1:212581504-212581505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34310999	chr1:212581535-212581536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375279742	chr1:212581562-212581563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555759912	chr1:212581613-212581614	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs150215549	chr1:212581617-212581618	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs74535987	chr1:212581663-212581664	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs188203260	chr1:212581678-212581679	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs72754338	chr1:212581690-212581691	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200496392	chr1:212581700-212581701	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375275643	chr1:212581704-212581705	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs376785918	chr1:212581708-212581709	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs556952509	chr1:212581714-212581715	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs148876406	chr1:212581771-212581772	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs564232443	chr1:212581979-212581980	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs367607888	chr1:212581999-212582000	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561124176	chr1:212582027-212582028	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573164994	chr1:212582093-212582094	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs146971813	chr1:212582098-212582099	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs531289010	chr1:212582142-212582143	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs35293141	chr1:212582143-212582144	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371697325	chr1:212582146-212582147	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs537010000	chr1:212582147-212582148	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs114794248	chr1:212582167-212582168	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533498892	chr1:212582168-212582169	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556917540	chr1:212582179-212582180	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs184728513	chr1:212582182-212582183	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs563726402	chr1:212582223-212582224	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs530767764	chr1:212582276-212582277	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs556307127	chr1:212582293-212582294	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549277428	chr1:212582317-212582318	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113937210	chr1:212582349-212582350	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs534984241	chr1:212582478-212582479	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs546818895	chr1:212582535-212582536	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs376768266	chr1:212582561-212582562	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs578163103	chr1:212582601-212582602	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs571492363	chr1:212582618-212582619	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs538746961	chr1:212582625-212582626	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs556734868	chr1:212582638-212582639	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs575203791	chr1:212582723-212582724	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567984038	chr1:212582737-212582738	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs76282656	chr1:212582781-212582782	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:229 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212526800-212582800	Weak transcription	Fetal Brain Male	brain
2	chr1:212528400-212583000	Weak transcription	Fetal Kidney	kidney
3	chr1:212556800-212587600	Weak transcription	Small Intestine	intestine
4	chr1:212560600-212582000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:212560600-212582000	Weak transcription	Gastric	stomach
6	chr1:212561000-212582400	Weak transcription	Aorta	Aorta
7	chr1:212569600-212582600	Weak transcription	Ovary	ovary
8	chr1:212570600-212582000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:212571000-212586200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:212572600-212582000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:212572600-212585000	Strong transcription	Dnd41	blood
12	chr1:212572800-212585600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:212573400-212582200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:212574400-212582000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:212575200-212583600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:212575200-212584400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:212575200-212585800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:212575400-212582600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:212575400-212584600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:212575400-212585000	Strong transcription	Thymus	Thymus
21	chr1:212575600-212582200	Weak transcription	Right Ventricle	heart
22	chr1:212575600-212585200	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:212576000-212584200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:212576000-212585200	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr1:212576200-212582600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:212576200-212582600	Weak transcription	NHLF	lung
27	chr1:212576200-212585200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:212576200-212585200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:212576400-212582000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:212576600-212582400	Weak transcription	Liver	Liver
31	chr1:212576600-212584000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr1:212576600-212585000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:212576800-212582000	Weak transcription	HUVEC	blood vessel
34	chr1:212577000-212581400	Weak transcription	Adipose Nuclei	Adipose
35	chr1:212577000-212582200	Weak transcription	Hela-S3	cervix
36	chr1:212577000-212584200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr1:212577000-212584600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:212577200-212586200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:212577200-212586200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:212577400-212582000	Weak transcription	Pancreas	Pancrea
41	chr1:212577600-212585000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:212577600-212585000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr1:212577600-212585000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:212577600-212585000	Strong transcription	NHEK	skin
45	chr1:212577800-212584000	Strong transcription	Primary B cells from peripheral blood	blood
46	chr1:212577800-212584800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:212577800-212585000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:212577800-212585000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:212577800-212585000	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr1:212577800-212586600	Strong transcription	Fetal Muscle Trunk	muscle

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