Variant report

Variant	esv3442348
Chromosome Location	chr11:67767859-67768447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67767898-67768064	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:67766852-67767869	GM12891	blood:	n/a	n/a
3	POLR2A	chr11:67768101-67768149	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:67768229-67768259	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:67764012-67767934	HL-60	blood:	n/a	n/a
6	POLR2A	chr11:67768067-67768190	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:67768189-67768253	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:67767961-67768433	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67768362-67768412	HAEpiC	amniotic membrane:	n/a
2	chr11:67768362-67768412	Caco-2	colon:	n/a
3	chr11:67768362-67768412	HRCEpiC	kidney:	n/a
4	chr11:67768362-67768412	AG04450	lung:	fetal
5	chr11:67768362-67768412	Hela-S3	cervix:	n/a
6	chr11:67768362-67768412	HepG2	liver:	n/a
7	chr11:67768362-67768412	AoSMC	blood vessel:	n/a
8	chr11:67768362-67768412	HPAEpiC	pulmonary alveolar:	n/a
9	chr11:67768362-67768412	Jurkat	blood:	n/a
10	chr11:67768362-67768412	HCM	heart:	n/a
11	chr11:67768362-67768412	IMR90	lung:	fetal
12	chr11:67768362-67768412	PANC-1	pancreas:	n/a
13	chr11:67768362-67768412	Hepatocyte	liver:	n/a
14	chr11:67768362-67768412	U87	brain:	n/a
15	chr11:67768362-67768412	NHDF-neo	bronchial:	n/a
16	chr11:67768362-67768412	T-47D	breast:	n/a
17	chr11:67768362-67768412	NB4	blood:	n/a
18	chr11:67768362-67768412	ECC-1	luminal epithelium:	n/a
19	chr11:67768362-67768412	NHBE	bronchial:	n/a
20	chr11:67768362-67768412	SK-N-SH	brain:	n/a
21	chr11:67768362-67768412	MCF-7	breast:	n/a
22	chr11:67768362-67768412	SK-N-MC	brain:	n/a
23	chr11:67768362-67768412	GM12892	blood:	n/a
24	chr11:67768362-67768412	PFSK-1	brain:	n/a
25	chr11:67768362-67768412	GM06990	blood:	n/a
26	chr11:67768362-67768412	HRPEpiC	eye:	n/a
27	chr11:67768362-67768412	AG09309	skin:	n/a
28	chr11:67768362-67768412	BJ	skin:	n/a
29	chr11:67768362-67768412	HRE	kidney:	n/a
30	chr11:67768362-67768412	RPTEC	kidney:	n/a
31	chr11:67768362-67768412	HCT-116	colon:	n/a
32	chr11:67768362-67768412	AG04449	skin:	fetal
33	chr11:67768362-67768412	AG09319	gingival:	n/a
34	chr11:67768362-67768412	HEK293	kidney:	embryo
35	chr11:67768362-67768412	HCF	heart:	n/a
36	chr11:67768362-67768412	SAEC	small airway:	n/a
37	chr11:67768362-67768412	HEEpiC	esophagus:	n/a
38	chr11:67768362-67768412	K562	blood:	n/a
39	chr11:67768362-67768412	HCPEpiC	choroid plexus:	n/a
40	chr11:67768362-67768412	HL-60	blood:	n/a
41	chr11:67768362-67768412	HUVEC	blood vessel:	n/a
42	chr11:67768362-67768412	HMEC	breast:	n/a
43	chr11:67768362-67768412	MCF10A-Er-Src	breast:	n/a
44	chr11:67768362-67768412	HIPEpiC	eye:	n/a
45	chr11:67768362-67768412	GM19239	blood:	n/a
46	chr11:67768362-67768412	SK-N-SH_RA	brain:	n/a
47	chr11:67768362-67768412	AG10803	skin:	n/a
48	chr11:67768362-67768412	H1-hESC	embryonic stem cell:	embryo
49	chr11:67768362-67768412	ProgFib	skin:	n/a
50	chr11:67768362-67768412	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:67766902..67768836-chr11:67769720..67771878,3	MCF-7	breast:
2	chr11:67762605..67767485-chr11:67767779..67773135,10	K562	blood:
3	chr11:67767693..67769603-chr11:67779964..67781851,2	K562	blood:

No data

Variant related genes	Relation type
UNC93B1	TF binding region
UNC93B1	CpG island
ENSG00000110057	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536833515	chr11:67767873-67767874	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs57984860	chr11:67767887-67767888	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552392136	chr11:67767899-67767900	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs143724415	chr11:67767917-67767918	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs539035947	chr11:67767923-67767924	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs534452762	chr11:67767938-67767939	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs553046826	chr11:67767951-67767952	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs148112726	chr11:67768077-67768078	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs7128338	chr11:67768090-67768091	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs556796815	chr11:67768098-67768099	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs575190941	chr11:67768122-67768123	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs200897822	chr11:67768134-67768135	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs6591325	chr11:67768175-67768176	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs6591326	chr11:67768210-67768211	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573011655	chr11:67768212-67768213	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs7114090	chr11:67768220-67768221	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs72940176	chr11:67768224-67768225	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs115500412	chr11:67768237-67768238	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs551037794	chr11:67768294-67768295	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs563174939	chr11:67768317-67768318	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs138204549	chr11:67768340-67768341	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs143701784	chr11:67768362-67768363	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs533598618	chr11:67768369-67768370	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs566915463	chr11:67768386-67768387	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs6591327	chr11:67768390-67768391	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs188736304	chr11:67768394-67768395	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs192009987	chr11:67768400-67768401	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs538236933	chr11:67768401-67768402	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs35549362	chr11:67768411-67768412	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21373257	CNVD
speech delay	21373257	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67759200-67770400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:67759200-67770400	Weak transcription	Right Atrium	heart
3	chr11:67761400-67769800	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr11:67762000-67770400	Weak transcription	NHLF	lung
5	chr11:67763600-67769800	Genic enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:67763800-67770400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:67764000-67768400	Genic enhancers	GM12878-XiMat	blood
8	chr11:67764200-67770000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:67764400-67770600	Weak transcription	Small Intestine	intestine
10	chr11:67764600-67769400	Weak transcription	Fetal Lung	lung
11	chr11:67764600-67769600	Weak transcription	Brain Substantia Nigra	brain
12	chr11:67764600-67770000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:67764600-67770000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:67764600-67770000	Weak transcription	Fetal Muscle Leg	muscle
15	chr11:67764600-67770600	Weak transcription	Right Ventricle	heart
16	chr11:67764800-67769800	Weak transcription	Adipose Nuclei	Adipose
17	chr11:67764800-67770200	Weak transcription	Esophagus	oesophagus
18	chr11:67764800-67770400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:67765000-67770000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:67765000-67770000	Weak transcription	Stomach Mucosa	stomach
21	chr11:67765000-67770200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:67765000-67770400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr11:67765000-67770400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:67765000-67770800	Weak transcription	K562	blood
25	chr11:67765200-67769000	Strong transcription	Fetal Intestine Small	intestine
26	chr11:67765200-67769000	Genic enhancers	Monocytes-CD14+_RO01746	blood
27	chr11:67765200-67769600	Weak transcription	Fetal Intestine Large	intestine
28	chr11:67765200-67769800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:67765200-67770000	Weak transcription	Placenta	Placenta
30	chr11:67765200-67770000	Weak transcription	Pancreas	Pancrea
31	chr11:67765200-67770400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:67765400-67769600	Weak transcription	Gastric	stomach
33	chr11:67765400-67769800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:67765400-67769800	Weak transcription	Hela-S3	cervix
35	chr11:67765400-67770000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:67765400-67770000	Weak transcription	Colonic Mucosa	Colon
37	chr11:67765400-67770200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr11:67765600-67770200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:67765600-67770400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:67765800-67770000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr11:67766000-67768400	Strong transcription	A549	lung
42	chr11:67766000-67770000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr11:67766000-67770600	Weak transcription	Primary T cells from cord blood	blood
44	chr11:67766200-67769200	Enhancers	Primary B cells from cord blood	blood
45	chr11:67766200-67769600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:67766200-67769800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:67766200-67769800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr11:67766200-67770000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:67766200-67770400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr11:67766200-67771400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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