Variant report

Variant	esv3382921
Chromosome Location	chr7:6851627-6856525
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	CTCF	chr7:6853658-6853716	LNCaP	prostate:	n/a	n/a
2	CTCF	chr7:6855541-6855596	LNCaP	prostate:	n/a	n/a
3	EBF1	chr7:6855414-6855674	GM12878	blood:	n/a	chr7:6855538-6855551 chr7:6855539-6855549 chr7:6855540-6855549
4	MYC	chr7:6854803-6854908	MCF-7	breast:	n/a	n/a
5	MYC	chr7:6854857-6854901	MCF-7	breast:	n/a	n/a
6	POLR2A	chr7:6856266-6856282	K562	blood:	n/a	n/a
7	POLR2A	chr7:6852413-6852525	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr7:6854778-6855618	GM12892	blood:	n/a	n/a
9	POLR2A	chr7:6855077-6855084	K562	blood:	n/a	n/a
10	POLR2A	chr7:6856312-6857008	GM12892	blood:	n/a	n/a
11	POLR2A	chr7:6854781-6856056	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:6855965-6856297	HepG2	liver:	n/a	n/a
13	POLR2A	chr7:6854714-6855681	GM12892	blood:	n/a	n/a
14	POLR2A	chr7:6855088-6855265	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:6854062-6854577	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:6854788-6854932	MCF-7	breast:	n/a	n/a
17	POLR2A	chr7:6854812-6854938	MCF-7	breast:	n/a	n/a
18	POLR2A	chr7:6855436-6855495	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr7:6855404-6855452	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:6856514-6857118	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr7:6856162-6857412	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:6854735-6855229	GM12892	blood:	n/a	n/a
23	POLR2A	chr7:6854794-6854985	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr7:6855009-6855073	K562	blood:	n/a	n/a
25	POLR2A	chr7:6855472-6855521	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:6854749-6855100	GM12892	blood:	n/a	n/a
27	POLR2A	chr7:6854817-6855251	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:6855541-6855578	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr7:6855194-6855736	K562	blood:	n/a	n/a
30	POLR2A	chr7:6854796-6855156	HepG2	liver:	n/a	n/a
31	POLR2A	chr7:6856185-6857415	GM12892	blood:	n/a	n/a
32	POLR2A	chr7:6856356-6857354	GM12892	blood:	n/a	n/a
33	POLR2A	chr7:6854788-6855080	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:6854991-6855381	PANC-1	pancreas:	n/a	n/a

Variant related genes	Relation type
CCZ1B	TF binding region

Extended variants
information (count: 261 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535901287	chr7:6851668-6851669	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367593576	chr7:6851685-6851686	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572486342	chr7:6851732-6851733	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187916637	chr7:6851773-6851774	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564745667	chr7:6851793-6851794	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201144490	chr7:6851804-6851805	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557474162	chr7:6851809-6851810	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201755240	chr7:6851823-6851824	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544582348	chr7:6851832-6851833	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2711208	chr7:6851834-6851835	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2711207	chr7:6851837-6851838	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191548232	chr7:6851846-6851847	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367690059	chr7:6851865-6851866	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371813737	chr7:6851874-6851875	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563058167	chr7:6851891-6851892	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12538084	chr7:6851892-6851893	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs548697579	chr7:6851907-6851908	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560596366	chr7:6851929-6851930	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527670128	chr7:6851968-6851969	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386709845	chr7:6851980-6851981	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386709846	chr7:6852012-6852013	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552508078	chr7:6852074-6852075	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182677291	chr7:6852075-6852076	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538877082	chr7:6852106-6852107	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12535740	chr7:6852113-6852114	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs113169120	chr7:6852135-6852136	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573380320	chr7:6852159-6852160	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550608353	chr7:6852187-6852188	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372380977	chr7:6852305-6852306	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568710935	chr7:6852308-6852309	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536073128	chr7:6852344-6852345	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2711205	chr7:6852411-6852412	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149854852	chr7:6852427-6852428	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs533673574	chr7:6852437-6852438	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs146406182	chr7:6852456-6852457	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs386709847	chr7:6852467-6852468	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs2711203	chr7:6852469-6852470	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs576773329	chr7:6852482-6852483	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs375604652	chr7:6852490-6852491	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs544880667	chr7:6852491-6852492	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs187326265	chr7:6852505-6852506	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs148747893	chr7:6852506-6852507	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs78538675	chr7:6852522-6852523	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs560682391	chr7:6852541-6852542	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199621613	chr7:6852588-6852589	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552391862	chr7:6852592-6852593	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200910144	chr7:6852593-6852594	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564462636	chr7:6852788-6852789	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531646456	chr7:6852816-6852817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192000269	chr7:6852818-6852819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6831400-6856600	Weak transcription	Thymus	Thymus
2	chr7:6832000-6851800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:6832000-6851800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:6832000-6852800	Weak transcription	Brain Germinal Matrix	brain
5	chr7:6832000-6853000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:6832000-6855000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:6832000-6856000	Weak transcription	Fetal Brain Female	brain
8	chr7:6832000-6856400	Weak transcription	Fetal Intestine Large	intestine
9	chr7:6832000-6864600	Weak transcription	Primary T cells from cord blood	blood
10	chr7:6832000-6864800	Weak transcription	Fetal Thymus	thymus
11	chr7:6832200-6852600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:6832200-6853000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr7:6832200-6860800	Weak transcription	Brain Anterior Caudate	brain
14	chr7:6832400-6856600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:6832400-6864600	Weak transcription	Fetal Lung	lung
16	chr7:6832600-6851800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:6832600-6858000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr7:6832600-6861000	Weak transcription	HUVEC	blood vessel
19	chr7:6832600-6864600	Weak transcription	NHLF	lung
20	chr7:6832800-6853000	Weak transcription	Placenta	Placenta
21	chr7:6833000-6865200	Weak transcription	Left Ventricle	heart
22	chr7:6833000-6865200	Weak transcription	Ovary	ovary
23	chr7:6833200-6865200	Weak transcription	Pancreas	Pancrea
24	chr7:6833600-6864600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:6833600-6865200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr7:6833800-6851800	Weak transcription	Spleen	Spleen
27	chr7:6833800-6853000	Weak transcription	Fetal Muscle Leg	muscle
28	chr7:6833800-6853000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:6834000-6851800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:6834000-6853000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr7:6834000-6853000	Weak transcription	Lung	lung
32	chr7:6834000-6866000	Weak transcription	Gastric	stomach
33	chr7:6836000-6853000	Weak transcription	Dnd41	blood
34	chr7:6840000-6865200	Weak transcription	Colonic Mucosa	Colon
35	chr7:6840600-6851800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:6841400-6852800	Weak transcription	Esophagus	oesophagus
37	chr7:6842400-6853000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:6842600-6852800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr7:6842600-6853000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:6846600-6864600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:6847400-6864600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr7:6847600-6853000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:6847600-6857200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:6847800-6851800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:6847800-6851800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:6847800-6864800	Weak transcription	NH-A	brain
47	chr7:6848200-6853000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:6848200-6860600	Weak transcription	Aorta	Aorta
49	chr7:6848200-6864600	Weak transcription	Colon Smooth Muscle	Colon
50	chr7:6848400-6864800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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