Variant report

Variant	nsv971337
Chromosome Location	chr8:94969168-94970266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:94970213-94970324	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr8:94969873-94970337	MCF-7	breast:	n/a	chr8:94970130-94970143 chr8:94970130-94970141 chr8:94970130-94970143 chr8:94970132-94970141 chr8:94970132-94970143
3	CEBPB	chr8:94969881-94970392	MCF-7	breast:	n/a	chr8:94970130-94970143 chr8:94970130-94970141 chr8:94970130-94970143 chr8:94970132-94970141 chr8:94970132-94970143
4	CEBPB	chr8:94969989-94970291	K562	blood:	n/a	chr8:94970130-94970143 chr8:94970130-94970141 chr8:94970130-94970143 chr8:94970132-94970141 chr8:94970132-94970143
5	CEBPB	chr8:94970006-94970240	A549	lung:	n/a	chr8:94970130-94970143 chr8:94970130-94970141 chr8:94970130-94970143 chr8:94970132-94970141 chr8:94970132-94970143
6	CEBPB	chr8:94969989-94970297	HepG2	liver:	n/a	chr8:94970130-94970143 chr8:94970130-94970141 chr8:94970130-94970143 chr8:94970132-94970141 chr8:94970132-94970143
7	FOXA1	chr8:94969966-94970603	HepG2	liver:	n/a	n/a
8	FOXA1	chr8:94969993-94970355	HepG2	liver:	n/a	n/a
9	FOXA1	chr8:94969919-94970294	HepG2	liver:	n/a	n/a
10	FOXA2	chr8:94970216-94970694	A549	lung:	n/a	n/a
11	FOXA2	chr8:94969934-94970299	HepG2	liver:	n/a	n/a
12	FOXA2	chr8:94970005-94970644	A549	lung:	n/a	n/a
13	GATA3	chr8:94969851-94970415	A549	lung:	n/a	chr8:94970229-94970238
14	GATA3	chr8:94969946-94970706	MCF-7	breast:	n/a	chr8:94970229-94970238
15	GATA3	chr8:94969827-94970856	MCF-7	breast:	n/a	chr8:94970229-94970238
16	GATA3	chr8:94969993-94970162	SH-SY5Y	brain:	n/a	n/a
17	GATA3	chr8:94969747-94970802	SK-N-SH	brain:	n/a	chr8:94970229-94970238
18	MAX	chr8:94970216-94970220	A549	lung:	n/a	n/a
19	POLR2A	chr8:94969539-94969996	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr8:94969769-94969810	ProgFib	skin:	n/a	n/a
21	POLR2A	chr8:94969569-94969733	ProgFib	skin:	n/a	n/a
22	POLR2A	chr8:94970163-94970704	HCT-116	colon:	n/a	n/a
23	POLR2A	chr8:94969530-94969715	HepG2	liver:	n/a	n/a
24	POLR2A	chr8:94969972-94970295	SK-N-SH	brain:	n/a	n/a
25	TCF12	chr8:94969887-94970557	SK-N-SH	brain:	n/a	n/a
26	TCF12	chr8:94969904-94970535	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:94836556..94838849-chr8:94970213..94972114,2	MCF-7	breast:
2	chr8:94936423..94938355-chr8:94966596..94969452,2	MCF-7	breast:
3	chr8:94967615..94969465-chr8:94986791..94988525,2	MCF-7	breast:
4	chr8:94927101..94932217-chr8:94967169..94973451,6	MCF-7	breast:

Variant related genes	Relation type
RPL34P18	TF binding region
ENSG00000164951	chromatin interactions
ENSG00000264448	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 108 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570344759	chr8:94969177-94969178	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs532666839	chr8:94969197-94969198	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs550372360	chr8:94969207-94969208	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs552431270	chr8:94969223-94969224	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs200286172	chr8:94969236-94969237	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs570943557	chr8:94969242-94969243	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs533534909	chr8:94969284-94969285	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs553497062	chr8:94969291-94969292	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs570367268	chr8:94969320-94969321	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs150036312	chr8:94969349-94969350	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs188100219	chr8:94969385-94969386	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs556047854	chr8:94969393-94969394	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs368842445	chr8:94969468-94969469	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs539646590	chr8:94969491-94969492	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs76379167	chr8:94969536-94969537	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs79858600	chr8:94969543-94969544	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs577520663	chr8:94969556-94969557	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs191901942	chr8:94969561-94969562	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs183762313	chr8:94969574-94969575	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs558883922	chr8:94969580-94969581	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs572521022	chr8:94969613-94969614	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs541391759	chr8:94969620-94969621	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs546574157	chr8:94969639-94969640	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs561444656	chr8:94969653-94969654	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs566884620	chr8:94969658-94969659	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs530104424	chr8:94969663-94969664	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs188386879	chr8:94969669-94969670	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs371702373	chr8:94969674-94969675	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs563757746	chr8:94969689-94969690	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs535502029	chr8:94969703-94969704	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs552338294	chr8:94969727-94969728	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs117060924	chr8:94969750-94969751	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs552491234	chr8:94969759-94969760	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs60341368	chr8:94969793-94969794	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs575657703	chr8:94969823-94969824	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs527292565	chr8:94969895-94969896	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs78174311	chr8:94969901-94969902	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs567367083	chr8:94969910-94969911	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs149222477	chr8:94969942-94969943	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs556210400	chr8:94969954-94969955	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs3134004	chr8:94969992-94969993	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs558434842	chr8:94969993-94969994	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs538835604	chr8:94969999-94970000	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs74433160	chr8:94970006-94970007	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs145146407	chr8:94970013-94970014	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs75971189	chr8:94970086-94970087	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs541453198	chr8:94970116-94970117	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs554638903	chr8:94970166-94970167	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs574755184	chr8:94970235-94970236	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs373204697	chr8:94970251-94970252	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:94965400-94969800	Weak transcription	Fetal Lung	lung
2	chr8:94965600-94971800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:94965800-94970200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:94966000-94969200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:94967400-94969200	Enhancers	HUVEC	blood vessel
6	chr8:94967400-94969400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:94967600-94969600	Enhancers	HepG2	liver
8	chr8:94967600-94970200	Weak transcription	Left Ventricle	heart
9	chr8:94968000-94973200	Weak transcription	Ovary	ovary
10	chr8:94968000-94973400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:94968200-94970200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:94968600-94970200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:94968600-94973400	Enhancers	Fetal Intestine Large	intestine
14	chr8:94968600-94973600	Enhancers	Fetal Intestine Small	intestine
15	chr8:94968800-94969200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr8:94968800-94970800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:94969000-94969600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:94969200-94970200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:94969200-94970200	Weak transcription	HUVEC	blood vessel
20	chr8:94969400-94971400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:94969600-94970000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:94969600-94970400	Bivalent Enhancer	HepG2	liver
23	chr8:94969600-94970600	Enhancers	Pancreas	Pancrea
24	chr8:94969600-94970800	Enhancers	Liver	Liver
25	chr8:94969800-94970600	Enhancers	Fetal Lung	lung
26	chr8:94970000-94970400	Enhancers	Brain Cingulate Gyrus	brain
27	chr8:94970000-94970600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:94970000-94970600	Enhancers	Brain Anterior Caudate	brain
29	chr8:94970000-94970600	Enhancers	Stomach Mucosa	stomach
30	chr8:94970200-94970400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr8:94970200-94970400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:94970200-94970400	Enhancers	Left Ventricle	heart
33	chr8:94970200-94970600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:94970200-94970600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr8:94970200-94970600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:94970200-94970600	Enhancers	Fetal Brain Male	brain
37	chr8:94970200-94970600	Enhancers	Fetal Muscle Leg	muscle
38	chr8:94970200-94970600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr8:94970200-94970600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr8:94970200-94970600	Enhancers	HMEC	breast
41	chr8:94970200-94970800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:94970200-94973800	Enhancers	HUVEC	blood vessel

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