Variant report

Variant	esv3420054
Chromosome Location	chr7:6193251-6195800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6064779..6066813-chr7:6192306..6194117,2	MCF-7	breast:
2	chr7:6194450..6196699-chr7:6202081..6204089,2	MCF-7	breast:
3	chr7:6194593..6196125-chr7:6200629..6202167,2	K562	blood:
4	chr7:6195312..6197722-chr7:6310990..6313470,2	K562	blood:
5	chr7:6189338..6192083-chr7:6192220..6194410,2	K562	blood:

Variant related genes	Relation type
ENSG00000086232	chromatin interactions
ENSG00000008256	chromatin interactions

Extended variants
information (count: 182 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180734426	chr7:6193283-6193284	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs562096128	chr7:6193324-6193325	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs529661004	chr7:6193333-6193334	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548231075	chr7:6193334-6193335	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369290853	chr7:6193426-6193427	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566475833	chr7:6193457-6193458	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs61732616	chr7:6193464-6193465	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs184987363	chr7:6193486-6193487	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs143342593	chr7:6193513-6193514	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs398003535	chr7:6193515-6193516	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs61729725	chr7:6193520-6193521	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs61729726	chr7:6193521-6193522	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556918457	chr7:6193536-6193537	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574852764	chr7:6193538-6193539	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs566295240	chr7:6193554-6193555	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs199569334	chr7:6193565-6193566	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554217282	chr7:6193579-6193580	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs572493113	chr7:6193589-6193590	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs202078216	chr7:6193590-6193591	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370074346	chr7:6193597-6193598	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558287537	chr7:6193600-6193601	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs115305232	chr7:6193612-6193613	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544070013	chr7:6193620-6193621	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs377304826	chr7:6193623-6193624	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200071428	chr7:6193628-6193629	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375308599	chr7:6193654-6193655	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs377506977	chr7:6193668-6193669	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370964563	chr7:6193671-6193672	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs370300954	chr7:6193674-6193675	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs374697905	chr7:6193684-6193685	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200692522	chr7:6193698-6193699	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs375556341	chr7:6193712-6193713	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs200010499	chr7:6193722-6193723	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs112159886	chr7:6193736-6193737	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374377877	chr7:6193738-6193739	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs189370785	chr7:6193739-6193740	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs61753119	chr7:6193752-6193753	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs115633720	chr7:6193762-6193763	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs202055244	chr7:6193765-6193766	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200951790	chr7:6193783-6193784	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370744249	chr7:6193798-6193799	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs200369514	chr7:6193808-6193809	Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs369114720	chr7:6193813-6193814	Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs201039486	chr7:6193816-6193817	Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs201567953	chr7:6193823-6193824	Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs553917396	chr7:6193838-6193839	Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs201991529	chr7:6193852-6193853	Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201498251	chr7:6193858-6193859	Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs181701655	chr7:6193871-6193872	Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373861053	chr7:6193877-6193878	Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	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
small cell lung cancer	17426248	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6146800-6218200	Weak transcription	Stomach Mucosa	stomach
2	chr7:6160600-6201800	Strong transcription	Fetal Thymus	thymus
3	chr7:6161400-6199600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:6161400-6202200	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr7:6164200-6199400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:6167400-6205600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:6172800-6202600	Strong transcription	Dnd41	blood
8	chr7:6173200-6204800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:6173800-6205000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:6174000-6193400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:6174200-6204800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:6174400-6200600	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr7:6174600-6202200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:6174800-6200000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:6175200-6199200	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:6175400-6204200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:6175600-6198800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:6175800-6193600	Strong transcription	Fetal Intestine Large	intestine
19	chr7:6176000-6198200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:6177000-6199400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:6177600-6199600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:6177600-6202400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr7:6178000-6197800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:6178000-6198800	Strong transcription	Fetal Muscle Leg	muscle
25	chr7:6178200-6194800	Strong transcription	Colonic Mucosa	Colon
26	chr7:6178200-6199200	Strong transcription	Brain Germinal Matrix	brain
27	chr7:6178200-6201800	Strong transcription	Liver	Liver
28	chr7:6178200-6204600	Strong transcription	Thymus	Thymus
29	chr7:6178400-6198800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:6178600-6196800	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr7:6178600-6198400	Strong transcription	Fetal Brain Female	brain
32	chr7:6178600-6199200	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:6178600-6199800	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr7:6178800-6198600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:6180200-6204800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr7:6181200-6199200	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr7:6181200-6199600	Strong transcription	Primary T cells from cord blood	blood
38	chr7:6181200-6205400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr7:6181200-6211800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:6181400-6202400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:6181600-6199600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr7:6182000-6197800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:6182200-6198800	Strong transcription	Adipose Nuclei	Adipose
44	chr7:6182200-6199400	Strong transcription	Right Ventricle	heart
45	chr7:6182200-6199600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:6182200-6201000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr7:6182200-6202400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:6182400-6197600	Strong transcription	Brain Hippocampus Middle	brain
49	chr7:6182400-6197800	Strong transcription	Brain Anterior Caudate	brain
50	chr7:6182400-6197800	Strong transcription	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links