Variant report

Variant	esv3424341
Chromosome Location	chr7:6541877-6545575
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6541800..6543644-chr7:6564855..6567732,2	K562	blood:
2	chr7:6530076..6532868-chr7:6542072..6546078,3	K562	blood:
3	chr7:6522337..6524449-chr7:6542969..6544719,2	K562	blood:
4	chr7:6519667..6521215-chr7:6538954..6541938,2	K562	blood:
5	chr7:6543086..6544609-chr7:6628754..6631098,2	MCF-7	breast:
6	chr17:55528969..55531188-chr7:6542980..6544894,2	MCF-7	breast:
7	chr7:6541570..6543326-chr7:6585489..6588258,2	MCF-7	breast:
8	chr7:6414882..6417650-chr7:6542443..6546000,3	MCF-7	breast:
9	chr7:6541964..6545996-chr7:6546800..6549452,3	K562	blood:
10	chr7:6501893..6503760-chr7:6541357..6543829,2	MCF-7	breast:
11	chr7:6530503..6532685-chr7:6541822..6544289,2	MCF-7	breast:
12	chr7:6519406..6527633-chr7:6541095..6545327,10	MCF-7	breast:
13	chr7:6542151..6545329-chr7:6615241..6617265,3	K562	blood:
14	chr7:6541950..6543739-chr7:6677071..6679453,2	K562	blood:
15	chr7:6485603..6488536-chr7:6541994..6543811,2	K562	blood:
16	chr7:6521451..6526537-chr7:6541616..6547791,14	MCF-7	breast:
17	chr7:6515446..6517619-chr7:6541586..6543669,2	MCF-7	breast:
18	chr2:215055714..215057340-chr7:6541480..6542991,2	MCF-7	breast:
19	chr7:6545468..6547666-chr7:6625864..6628831,2	K562	blood:
20	chr7:6523517..6526434-chr7:6541956..6543782,3	K562	blood:
21	chr7:6527568..6529479-chr7:6542425..6544621,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269781	chromatin interactions
ENSG00000136247	chromatin interactions
ENSG00000231359	chromatin interactions
ENSG00000232581	chromatin interactions
ENSG00000136240	chromatin interactions
ENSG00000146576	chromatin interactions
ENSG00000164535	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556306328	chr7:6541880-6541881	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs563206222	chr7:6541882-6541883	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs574566167	chr7:6541918-6541919	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs542468758	chr7:6541936-6541937	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs560663830	chr7:6541950-6541951	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs528015170	chr7:6541958-6541959	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs28631414	chr7:6542001-6542002	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs183654852	chr7:6542038-6542039	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs531751818	chr7:6542046-6542047	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs549730751	chr7:6542094-6542095	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs189104142	chr7:6542099-6542100	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs529326192	chr7:6542111-6542112	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs193144187	chr7:6542164-6542165	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs200365417	chr7:6542211-6542212	Bivalent Enhancer Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs182841899	chr7:6542229-6542230	Bivalent Enhancer Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs116406473	chr7:6542236-6542237	Bivalent Enhancer Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs186752362	chr7:6542237-6542238	Bivalent Enhancer Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs34841180	chr7:6542238-6542239	Bivalent Enhancer Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs570618685	chr7:6542247-6542248	Bivalent Enhancer Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs539124213	chr7:6542279-6542280	Bivalent Enhancer Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs534314873	chr7:6542296-6542297	Bivalent Enhancer Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs556171884	chr7:6542330-6542331	Bivalent Enhancer Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs373746740	chr7:6542338-6542339	Bivalent Enhancer Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs541935841	chr7:6542358-6542359	Bivalent Enhancer Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs553860677	chr7:6542359-6542360	Bivalent Enhancer Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs372287681	chr7:6542366-6542367	Bivalent Enhancer Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs191622048	chr7:6542392-6542393	Bivalent Enhancer Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs375293537	chr7:6542394-6542395	Bivalent Enhancer Weak transcription Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs367997680	chr7:6542401-6542402	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs201370258	chr7:6542474-6542475	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs552395182	chr7:6542493-6542494	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs572602751	chr7:6542559-6542560	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs199615691	chr7:6542609-6542610	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs200791215	chr7:6542624-6542625	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs201998040	chr7:6542709-6542710	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs373500827	chr7:6542741-6542742	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs376614193	chr7:6542750-6542751	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs543440511	chr7:6542797-6542798	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs561745257	chr7:6542847-6542848	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs529390220	chr7:6542874-6542875	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs547497091	chr7:6542878-6542879	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs60239513	chr7:6542900-6542901	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs527505382	chr7:6542929-6542930	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs556135435	chr7:6543017-6543018	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs570749541	chr7:6543039-6543040	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs35548423	chr7:6543106-6543107	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs375286001	chr7:6543141-6543142	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs538133069	chr7:6543220-6543221	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs140972344	chr7:6543334-6543335	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs568070729	chr7:6543371-6543372	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	6 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
Intracranial arachnoid cysts	20187927	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:445 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6529600-6542600	Weak transcription	Right Atrium	heart
2	chr7:6533200-6543000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:6534600-6542400	Weak transcription	Fetal Intestine Large	intestine
4	chr7:6534800-6542400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:6535600-6542400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:6535800-6542400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:6535800-6542400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:6536400-6542200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:6536600-6542400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:6537000-6542400	Weak transcription	Esophagus	oesophagus
11	chr7:6538000-6542000	Weak transcription	Gastric	stomach
12	chr7:6538400-6542200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:6540400-6545400	Weak transcription	Fetal Heart	heart
14	chr7:6540600-6542600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:6541400-6542600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr7:6541400-6542600	Enhancers	Pancreas	Pancrea
17	chr7:6541400-6543000	Enhancers	Spleen	Spleen
18	chr7:6541600-6542600	Weak transcription	K562	blood
19	chr7:6541800-6542000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:6541800-6542200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:6541800-6542400	Weak transcription	Fetal Intestine Small	intestine
22	chr7:6541800-6542400	Weak transcription	Right Ventricle	heart
23	chr7:6542000-6542400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:6542000-6543000	Enhancers	Gastric	stomach
25	chr7:6542200-6542400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
26	chr7:6542200-6542400	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr7:6542200-6542400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:6542200-6542400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:6542400-6542600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
30	chr7:6542400-6542600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
31	chr7:6542400-6542600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr7:6542400-6542600	Enhancers	Fetal Brain Male	brain
33	chr7:6542400-6542600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr7:6542400-6542800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
35	chr7:6542400-6542800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
36	chr7:6542400-6542800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr7:6542400-6542800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:6542400-6542800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:6542400-6542800	Active TSS	Colonic Mucosa	Colon
40	chr7:6542400-6542800	Flanking Active TSS	Esophagus	oesophagus
41	chr7:6542400-6542800	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr7:6542400-6542800	Enhancers	Small Intestine	intestine
43	chr7:6542400-6543000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:6542400-6543000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:6542400-6543000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr7:6542400-6543000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:6542400-6543000	Enhancers	Brain Cingulate Gyrus	brain
48	chr7:6542400-6543000	Enhancers	Placenta Amnion	Placenta Amnion
49	chr7:6542400-6543000	Enhancers	Right Ventricle	heart
50	chr7:6542400-6543000	Enhancers	Stomach Mucosa	stomach

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