Variant report

Variant	esv2762646
Chromosome Location	chr7:5696125-5697928
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:5697529..5700496-chr7:5700687..5702223,2	K562	blood:
2	chr7:5633680..5635202-chr7:5695155..5698148,2	K562	blood:
3	chr7:5567802..5570642-chr7:5696876..5699142,2	MCF-7	breast:
4	chr7:5694848..5697610-chr7:5699899..5703275,3	K562	blood:
5	chr7:5668201..5671136-chr7:5696894..5699870,2	K562	blood:
6	chr7:5697370..5699882-chr7:5703729..5706961,3	MCF-7	breast:
7	chr7:5697758..5700180-chr7:5700493..5702713,2	MCF-7	breast:
8	chr7:5696126..5698767-chr7:5718167..5720079,2	MCF-7	breast:
9	chr7:5691115..5694271-chr7:5695445..5698769,3	MCF-7	breast:
10	chr7:5697885..5699964-chr7:5702405..5705157,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000075624	chromatin interactions
ENSG00000263900	chromatin interactions
ENSG00000075618	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs852519	chr7:5696125-5696126	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185465849	chr7:5696138-5696139	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562437094	chr7:5696148-5696149	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574798680	chr7:5696154-5696155	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs34782065	chr7:5696193-5696194	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs542177113	chr7:5696195-5696196	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568081076	chr7:5696199-5696200	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs560395527	chr7:5696207-5696208	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs527536208	chr7:5696218-5696219	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188279631	chr7:5696246-5696247	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536817032	chr7:5696266-5696267	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564429081	chr7:5696310-5696311	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531666667	chr7:5696313-5696314	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566258907	chr7:5696324-5696325	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs6971289	chr7:5696335-5696336	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191890933	chr7:5696360-5696361	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs535437281	chr7:5696368-5696369	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs547821175	chr7:5696382-5696383	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs143732539	chr7:5696393-5696394	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs539655185	chr7:5696413-5696414	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs534477414	chr7:5696420-5696421	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184232851	chr7:5696424-5696425	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577032486	chr7:5696505-5696506	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs373266864	chr7:5696520-5696521	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188560299	chr7:5696532-5696533	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs556277383	chr7:5696579-5696580	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs574511522	chr7:5696602-5696603	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541839730	chr7:5696603-5696604	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs560198197	chr7:5696626-5696627	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs180896340	chr7:5696627-5696628	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs147138829	chr7:5696679-5696680	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570748400	chr7:5696681-5696682	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs564273070	chr7:5696689-5696690	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs531387901	chr7:5696690-5696691	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs549892424	chr7:5696695-5696696	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs561842032	chr7:5696701-5696702	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529287330	chr7:5696742-5696743	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559318731	chr7:5696770-5696771	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs184145584	chr7:5696811-5696812	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566246660	chr7:5696823-5696824	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs140338435	chr7:5696836-5696837	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs116636581	chr7:5696840-5696841	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs570294038	chr7:5696922-5696923	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs190798448	chr7:5696928-5696929	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs144289497	chr7:5696946-5696947	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs568123694	chr7:5696967-5696968	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs535111277	chr7:5696996-5696997	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs151176747	chr7:5697010-5697011	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs572266748	chr7:5697029-5697030	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs139104500	chr7:5697101-5697102	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 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
Urothelial carcinoma	21177765	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
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5674800-5728200	Weak transcription	Small Intestine	intestine
2	chr7:5677000-5701400	Weak transcription	Fetal Brain Male	brain
3	chr7:5677200-5707200	Weak transcription	Stomach Mucosa	stomach
4	chr7:5677400-5706200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:5679200-5706000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:5679400-5701600	Weak transcription	Fetal Heart	heart
7	chr7:5683400-5697600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:5683600-5710400	Weak transcription	Colonic Mucosa	Colon
9	chr7:5689800-5704000	Weak transcription	Fetal Brain Female	brain
10	chr7:5690000-5701400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:5690200-5699000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:5690200-5701400	Weak transcription	Brain Germinal Matrix	brain
13	chr7:5690200-5704000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:5690200-5706000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:5690400-5701400	Weak transcription	NHDF-Ad	bronchial
16	chr7:5690400-5702400	Weak transcription	Psoas Muscle	Psoas
17	chr7:5690600-5701000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:5690600-5704200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:5690600-5704200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:5690800-5701000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr7:5690800-5704000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:5691000-5701600	Weak transcription	Right Ventricle	heart
23	chr7:5691000-5712000	Weak transcription	Fetal Kidney	kidney
24	chr7:5691200-5721000	Weak transcription	Pancreas	Pancrea
25	chr7:5691800-5701600	Weak transcription	Fetal Lung	lung
26	chr7:5692000-5701600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:5692200-5696200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:5692200-5700200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:5692200-5701000	Weak transcription	HUVEC	blood vessel
30	chr7:5692200-5701200	Weak transcription	Aorta	Aorta
31	chr7:5692200-5701600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:5692200-5701600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr7:5692200-5701600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr7:5692200-5704000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:5692400-5697400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:5692400-5700800	Weak transcription	Ovary	ovary
37	chr7:5692400-5701000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr7:5692400-5701200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:5692400-5701200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr7:5692400-5701200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr7:5692400-5701600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:5692400-5701600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr7:5692600-5717400	Weak transcription	Hela-S3	cervix
44	chr7:5692800-5696200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:5692800-5696400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:5692800-5698600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr7:5692800-5701400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr7:5692800-5701600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:5692800-5701600	Weak transcription	K562	blood
50	chr7:5692800-5702000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links