Variant report

Variant	esv3448173
Chromosome Location	chr7:7636127-7638175
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7638042..7639826-chr7:7678008..7679619,2	K562	blood:
2	chr7:7636253..7637908-chr7:7651754..7653845,2	K562	blood:
3	chr7:7606627..7608636-chr7:7635277..7637792,2	K562	blood:
4	chr7:7633919..7636130-chr7:8008311..8010496,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106399	chromatin interactions
ENSG00000106415	chromatin interactions
ENSG00000272894	chromatin interactions
ENSG00000233108	chromatin interactions
ENSG00000164654	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371157705	chr7:7636131-7636132	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs574443099	chr7:7636135-7636136	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542045695	chr7:7636148-7636149	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs187344140	chr7:7636176-7636177	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs572014873	chr7:7636181-7636182	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs572556309	chr7:7636198-7636199	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs553460561	chr7:7636203-7636204	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs564955170	chr7:7636204-7636205	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs367891139	chr7:7636247-7636248	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs192292434	chr7:7636262-7636263	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs544178828	chr7:7636266-7636267	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs563045772	chr7:7636350-7636351	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs530098078	chr7:7636378-7636379	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs76110676	chr7:7636387-7636388	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs73340652	chr7:7636434-7636435	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs528005590	chr7:7636448-7636449	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs565574297	chr7:7636475-7636476	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs185618772	chr7:7636476-7636477	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs142417730	chr7:7636492-7636493	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs564263920	chr7:7636507-7636508	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs531492652	chr7:7636508-7636509	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs116631925	chr7:7636531-7636532	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs555873919	chr7:7636546-7636547	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs568159603	chr7:7636565-7636566	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs535159062	chr7:7636566-7636567	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs553957091	chr7:7636602-7636603	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs200471023	chr7:7636641-7636642	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs561388565	chr7:7636668-7636669	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs571877234	chr7:7636670-7636671	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs545580125	chr7:7636676-7636677	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs71543834	chr7:7636678-7636679	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs71543835	chr7:7636681-7636682	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs557659420	chr7:7636727-7636728	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs2881890	chr7:7636740-7636741	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs376843008	chr7:7636751-7636752	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs62450243	chr7:7636753-7636754	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562693233	chr7:7636774-7636775	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs530234349	chr7:7636777-7636778	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs188630638	chr7:7636784-7636785	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs193272488	chr7:7636838-7636839	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs527914400	chr7:7636882-7636883	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs184098603	chr7:7636901-7636902	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs10261261	chr7:7636912-7636913	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs532000312	chr7:7636920-7636921	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs565463340	chr7:7636935-7636936	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs549754931	chr7:7636940-7636941	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs150537344	chr7:7636963-7636964	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs567938937	chr7:7636986-7636987	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs200227019	chr7:7637075-7637076	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs114162713	chr7:7637080-7637081	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Melanoma	18172304	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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7607200-7648400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:7607400-7646400	Weak transcription	Esophagus	oesophagus
3	chr7:7607400-7648200	Weak transcription	Lung	lung
4	chr7:7607600-7646400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:7607600-7648400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:7608200-7648800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:7608400-7648600	Weak transcription	NH-A	brain
8	chr7:7609400-7639400	Weak transcription	Fetal Heart	heart
9	chr7:7609400-7640800	Weak transcription	Stomach Mucosa	stomach
10	chr7:7609400-7645600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:7609400-7648400	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:7609400-7649000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:7609600-7641000	Weak transcription	Spleen	Spleen
14	chr7:7609600-7642200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:7609600-7649000	Weak transcription	Right Ventricle	heart
16	chr7:7609600-7650400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:7609600-7651000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr7:7609600-7652600	Weak transcription	Fetal Brain Male	brain
19	chr7:7609800-7648000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr7:7609800-7648800	Weak transcription	Brain Germinal Matrix	brain
21	chr7:7610400-7640800	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:7610600-7639400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr7:7610600-7648200	Weak transcription	Pancreas	Pancrea
24	chr7:7610600-7654400	Weak transcription	Gastric	stomach
25	chr7:7611200-7652400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:7613000-7646400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:7613200-7637600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:7613200-7637800	Weak transcription	NHDF-Ad	bronchial
29	chr7:7613200-7638600	Weak transcription	Fetal Kidney	kidney
30	chr7:7613200-7639400	Weak transcription	Fetal Brain Female	brain
31	chr7:7613200-7639800	Weak transcription	HSMMtube	muscle
32	chr7:7613400-7639000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:7613400-7639000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:7614000-7648600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr7:7614400-7640400	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr7:7617400-7649200	Weak transcription	Psoas Muscle	Psoas
37	chr7:7617800-7639200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:7618000-7636600	Weak transcription	Thymus	Thymus
39	chr7:7621600-7636400	Weak transcription	Colonic Mucosa	Colon
40	chr7:7621600-7636400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr7:7621600-7637200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:7621600-7639200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:7621600-7639400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr7:7621600-7646600	Weak transcription	Brain Anterior Caudate	brain
45	chr7:7621600-7648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:7621600-7656400	Weak transcription	Aorta	Aorta
47	chr7:7622400-7639000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:7622600-7650400	Weak transcription	HUVEC	blood vessel
49	chr7:7623000-7639000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:7627400-7640000	Strong transcription	Monocytes-CD14+_RO01746	blood

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