Variant report

Variant	nsv605872
Chromosome Location	chr7:2770899-2776698
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:2726497..2731953-chr7:2769904..2775258,10	MCF-7	breast:
2	chr7:2770824..2773530-chr7:2796217..2798133,2	K562	blood:
3	chr7:2773431..2776553-chr7:2903290..2905361,3	K562	blood:
4	chr7:2770258..2772875-chr7:2776418..2779322,2	MCF-7	breast:
5	chr7:2756196..2760316-chr7:2775723..2779597,5	K562	blood:
6	chr7:2767711..2769889-chr7:2772615..2775037,2	MCF-7	breast:
7	chr7:2768256..2774537-chr7:2775031..2780281,7	K562	blood:
8	chr7:2772398..2774554-chr7:2882774..2884282,2	MCF-7	breast:
9	chr7:2756029..2757761-chr7:2771814..2773662,2	MCF-7	breast:
10	chr7:2776568..2779036-chr7:2798696..2800622,2	MCF-7	breast:
11	chr7:2760677..2762584-chr7:2771267..2773265,2	MCF-7	breast:
12	chr7:2772721..2775716-chr7:2791855..2793482,2	K562	blood:
13	chr7:2758294..2760218-chr7:2772871..2774400,2	MCF-7	breast:
14	chr7:2751778..2761552-chr7:2768388..2775125,13	K562	blood:
15	chr7:2775731..2778086-chr7:2883079..2885342,2	MCF-7	breast:
16	chr7:2774700..2776614-chr7:2776650..2778258,3	K562	blood:
17	chr7:2773516..2775458-chr7:2797228..2798920,2	MCF-7	breast:
18	chr7:2769685..2774579-chr7:2777594..2780364,4	K562	blood:
19	chr7:2768256..2774537-chr7:2775031..2780281,7	K562	blood:
20	chr7:2774700..2776614-chr7:2776650..2778258,3	K562	blood:
21	chr7:2770258..2772875-chr7:2776418..2779322,2	MCF-7	breast:
22	chr7:2772073..2775942-chr7:2781505..2783799,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000146535	chromatin interactions
ENSG00000174945	chromatin interactions

Extended variants
information (count: 360 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34711743	chr7:2770899-2770900	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138692914	chr7:2770905-2770906	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12721528	chr7:2770913-2770914	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201860352	chr7:2770928-2770929	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs111404280	chr7:2770932-2770933	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs140322696	chr7:2770936-2770937	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532433262	chr7:2770956-2770957	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs45583847	chr7:2770973-2770974	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs143607374	chr7:2770976-2770977	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545924345	chr7:2770982-2770983	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs61758983	chr7:2770983-2770984	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs201320970	chr7:2770998-2770999	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs111264276	chr7:2771000-2771001	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141784313	chr7:2771003-2771004	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs76478938	chr7:2771025-2771026	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368581021	chr7:2771039-2771040	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs370891210	chr7:2771040-2771041	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs199802606	chr7:2771093-2771094	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs191664263	chr7:2771101-2771102	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs540650945	chr7:2771106-2771107	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs150519840	chr7:2771120-2771121	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs199650069	chr7:2771121-2771122	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs570479193	chr7:2771124-2771125	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs200282933	chr7:2771129-2771130	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs149751425	chr7:2771133-2771134	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs201962977	chr7:2771183-2771184	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566672345	chr7:2771208-2771209	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs535681947	chr7:2771210-2771211	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs45606633	chr7:2771237-2771238	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371474667	chr7:2771250-2771251	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs138638605	chr7:2771265-2771266	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs375880168	chr7:2771297-2771298	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201475988	chr7:2771312-2771313	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs370690250	chr7:2771313-2771314	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs9655213	chr7:2771395-2771396	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs372227846	chr7:2771417-2771418	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs41305918	chr7:2771429-2771430	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs574070992	chr7:2771476-2771477	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs11772508	chr7:2771504-2771505	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs545889409	chr7:2771583-2771584	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs145554441	chr7:2771588-2771589	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376882486	chr7:2771638-2771639	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs11765492	chr7:2771642-2771643	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs190073132	chr7:2771671-2771672	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs148885947	chr7:2771706-2771707	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs141698286	chr7:2771716-2771717	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs374138860	chr7:2771806-2771807	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs115045691	chr7:2771845-2771846	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs115940710	chr7:2771853-2771854	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs548620095	chr7:2771900-2771901	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Acute myeloid leukemia	19651601	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	17160897	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
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
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2752400-2796000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:2754800-2774200	Weak transcription	Fetal Brain Male	brain
3	chr7:2756000-2777800	Weak transcription	Psoas Muscle	Psoas
4	chr7:2757600-2772800	Weak transcription	Small Intestine	intestine
5	chr7:2758600-2771600	Weak transcription	K562	blood
6	chr7:2759200-2774000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:2759400-2771600	Strong transcription	Pancreas	Pancrea
8	chr7:2761000-2773000	Weak transcription	A549	lung
9	chr7:2761000-2774200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:2761000-2774200	Weak transcription	GM12878-XiMat	blood
11	chr7:2761000-2774800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:2761000-2796200	Weak transcription	Hela-S3	cervix
13	chr7:2761000-2797000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:2761400-2772800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:2762600-2772800	Strong transcription	Fetal Intestine Large	intestine
16	chr7:2762800-2771200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:2762800-2771400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:2764600-2771600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:2764600-2774400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:2764800-2771400	Strong transcription	Primary B cells from cord blood	blood
21	chr7:2764800-2772600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr7:2765200-2771400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:2766600-2773400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:2767200-2773000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:2767800-2771000	Genic enhancers	Fetal Muscle Leg	muscle
26	chr7:2767800-2773000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr7:2768000-2772200	Weak transcription	HUVEC	blood vessel
28	chr7:2768000-2772600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:2768400-2771200	Genic enhancers	Fetal Muscle Trunk	muscle
30	chr7:2768400-2771400	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr7:2768400-2771800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:2768400-2773000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:2768400-2773400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:2768400-2773600	Strong transcription	HepG2	liver
35	chr7:2768400-2776600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:2768600-2771200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:2768600-2771400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr7:2768600-2772800	Weak transcription	Stomach Mucosa	stomach
39	chr7:2768600-2773600	Strong transcription	Primary T cells from cord blood	blood
40	chr7:2768800-2771000	Genic enhancers	Left Ventricle	heart
41	chr7:2768800-2771200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:2768800-2771600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr7:2768800-2772600	Weak transcription	Fetal Heart	heart
44	chr7:2768800-2773200	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr7:2769000-2771200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:2769000-2771200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:2769000-2771400	Strong transcription	NHDF-Ad	bronchial
48	chr7:2769000-2771400	Strong transcription	NHEK	skin
49	chr7:2769000-2772000	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr7:2769000-2772200	Strong transcription	Liver	Liver

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