Variant report

Variant	esv3337877
Chromosome Location	chr7:6660277-6662775
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6655297..6658106-chr7:6659491..6662615,3	K562	blood:
2	chr7:6657590..6663602-chr7:6673662..6680073,8	MCF-7	breast:
3	chr7:6656839..6659879-chr7:6661538..6663786,3	K562	blood:
4	chr7:6628457..6631267-chr7:6660090..6662894,2	K562	blood:
5	chr7:6660564..6662217-chr7:6683757..6686361,2	MCF-7	breast:
6	chr7:6661077..6664696-chr7:6667812..6669863,3	MCF-7	breast:
7	chr7:6661901..6664151-chr7:6670252..6671986,3	MCF-7	breast:
8	chr7:6659549..6661363-chr7:6670073..6672008,2	K562	blood:
9	chr7:6660007..6662837-chr7:6675219..6677958,3	K562	blood:
10	chr7:6660093..6661828-chr7:6695492..6697100,2	MCF-7	breast:
11	chr7:6659409..6665689-chr7:6670317..6679304,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000232581	chromatin interactions
ENSG00000205903	chromatin interactions
ENSG00000146576	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565837578	chr7:6660281-6660282	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs552294424	chr7:6660348-6660349	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs372814453	chr7:6660428-6660429	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs570510977	chr7:6660442-6660443	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs531636396	chr7:6660473-6660474	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs550837794	chr7:6660487-6660488	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs191379678	chr7:6660525-6660526	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs141071524	chr7:6660553-6660554	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs554812862	chr7:6660563-6660564	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs940872	chr7:6660576-6660577	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs554066026	chr7:6660606-6660607	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs566713522	chr7:6660607-6660608	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs533866882	chr7:6660628-6660629	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs558712032	chr7:6660629-6660630	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs560928190	chr7:6660667-6660668	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs149850607	chr7:6660679-6660680	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs556791027	chr7:6660691-6660692	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs575037105	chr7:6660732-6660733	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs542369862	chr7:6660753-6660754	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs373055119	chr7:6660769-6660770	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs940873	chr7:6660790-6660791	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs61745889	chr7:6660831-6660832	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs564274880	chr7:6660832-6660833	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs186235481	chr7:6660857-6660858	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs549909661	chr7:6660873-6660874	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs569092955	chr7:6660874-6660875	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs373232495	chr7:6660916-6660917	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs376257434	chr7:6660922-6660923	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs566648704	chr7:6660933-6660934	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs534009255	chr7:6660934-6660935	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs558648749	chr7:6660945-6660946	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs570477913	chr7:6660948-6660949	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs190901995	chr7:6660957-6660958	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs555898212	chr7:6660980-6660981	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs574417397	chr7:6660987-6660988	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs542114892	chr7:6660998-6660999	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs554073616	chr7:6661009-6661010	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs372889728	chr7:6661043-6661044	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs377160491	chr7:6661046-6661047	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs200974751	chr7:6661153-6661154	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs572290256	chr7:6661158-6661159	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs370345046	chr7:6661180-6661181	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs118032733	chr7:6661186-6661187	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs58107700	chr7:6661229-6661230	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs11971880	chr7:6661256-6661257	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs375997335	chr7:6661293-6661294	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs561932184	chr7:6661296-6661297	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs368292733	chr7:6661337-6661338	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs368412948	chr7:6661381-6661382	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs548486422	chr7:6661384-6661385	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Autism	20685689	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6655800-6663200	Weak transcription	Liver	Liver
2	chr7:6656000-6660600	Weak transcription	Aorta	Aorta
3	chr7:6656000-6660800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:6656000-6660800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:6656000-6661000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:6656000-6661000	Weak transcription	Esophagus	oesophagus
7	chr7:6656000-6661000	Weak transcription	Left Ventricle	heart
8	chr7:6656000-6663200	Weak transcription	Fetal Kidney	kidney
9	chr7:6656000-6666600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:6656000-6676000	Weak transcription	Psoas Muscle	Psoas
11	chr7:6656200-6660600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:6656200-6660600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:6656200-6660600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:6656200-6660600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:6656200-6660800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:6656200-6660800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:6656200-6660800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:6656200-6660800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:6656200-6660800	Weak transcription	Fetal Intestine Large	intestine
20	chr7:6656200-6661000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:6656200-6661000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:6656200-6661000	Weak transcription	Right Ventricle	heart
23	chr7:6656200-6661200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:6656200-6661200	Weak transcription	Right Atrium	heart
25	chr7:6656200-6662800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:6656200-6669200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:6656200-6675800	Weak transcription	HSMM	muscle
28	chr7:6656400-6660600	Weak transcription	Gastric	stomach
29	chr7:6656400-6660600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:6656600-6660400	Weak transcription	Brain Angular Gyrus	brain
31	chr7:6656600-6660600	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:6656600-6660800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr7:6656600-6669200	Weak transcription	Fetal Heart	heart
34	chr7:6656800-6660600	Weak transcription	HepG2	liver
35	chr7:6656800-6661000	Weak transcription	Pancreas	Pancrea
36	chr7:6656800-6661000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr7:6656800-6667000	Strong transcription	Fetal Stomach	stomach
38	chr7:6656800-6675800	Weak transcription	Fetal Brain Male	brain
39	chr7:6657000-6660800	Weak transcription	Adipose Nuclei	Adipose
40	chr7:6657000-6660800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:6657000-6661000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:6657000-6664200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:6657000-6665000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:6657000-6665400	Strong transcription	Fetal Muscle Leg	muscle
45	chr7:6657000-6665800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr7:6657000-6666000	Strong transcription	Fetal Brain Female	brain
47	chr7:6657200-6660400	Weak transcription	Thymus	Thymus
48	chr7:6657200-6661000	Weak transcription	Spleen	Spleen
49	chr7:6657200-6664400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:6657200-6665600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links