Variant report

Variant	nsv981137
Chromosome Location	chr6:37450722-37452830
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37348034..37349809-chr6:37450767..37452379,2	K562	blood:
2	chr6:37448210..37451010-chr6:37482118..37484936,2	K562	blood:
3	chr6:37448409..37450836-chr6:37456466..37458234,2	MCF-7	breast:
4	chr6:37451749..37453010-chr6:37659528..37660589,3	MCF-7	breast:
5	chr6:37348929..37349912-chr6:37452692..37453217,3	K562	blood:
6	chr6:37444354..37450261-chr6:37451286..37455412,6	K562	blood:
7	chr6:37448778..37451469-chr6:37463694..37466649,2	K562	blood:
8	chr6:37451662..37452653-chr6:37533854..37534717,5	MCF-7	breast:
9	chr6:37451478..37453334-chr6:37536422..37539056,2	MCF-7	breast:
10	chr6:37349404..37350177-chr6:37452710..37453695,3	MCF-7	breast:
11	chr6:37451621..37453221-chr6:37659409..37660540,11	MCF-7	breast:
12	chr6:37440048..37442890-chr6:37451802..37453987,2	K562	blood:
13	chr6:37451632..37452946-chr6:37659336..37660499,7	K562	blood:
14	chr6:37451717..37452657-chr6:37527940..37528848,3	K562	blood:
15	chr6:37451515..37452625-chr6:37533585..37534691,7	K562	blood:
16	chr6:37293638..37294257-chr6:37452647..37453259,2	K562	blood:
17	chr6:37452135..37453136-chr6:37527090..37527792,3	K562	blood:
18	chr6:37448946..37451391-chr6:37464839..37466723,2	K562	blood:
19	chr6:37451407..37454249-chr6:37454793..37456445,3	K562	blood:
20	chr6:37430390..37432623-chr6:37452066..37454442,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137200	chromatin interactions

Extended variants
information (count: 119 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551581753	chr6:37450760-37450761	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565515174	chr6:37450768-37450769	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185138437	chr6:37450790-37450791	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13216875	chr6:37450803-37450804	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189266240	chr6:37450812-37450813	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574881427	chr6:37450824-37450825	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191706434	chr6:37450844-37450845	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs3734325	chr6:37450851-37450852	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568845679	chr6:37450883-37450884	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146381766	chr6:37450884-37450885	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184295314	chr6:37450909-37450910	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10692	chr6:37450914-37450915	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs533701063	chr6:37450924-37450925	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201463577	chr6:37450937-37450938	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368185026	chr6:37450953-37450954	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573565030	chr6:37450971-37450972	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146517218	chr6:37450984-37450985	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138745679	chr6:37450985-37450986	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556185318	chr6:37450990-37450991	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576020127	chr6:37450992-37450993	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188157505	chr6:37451024-37451025	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148927861	chr6:37451032-37451033	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201946781	chr6:37451036-37451037	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541234466	chr6:37451045-37451046	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143824551	chr6:37451049-37451050	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374683329	chr6:37451055-37451056	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148157970	chr6:37451061-37451062	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180956135	chr6:37451065-37451066	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371542950	chr6:37451081-37451082	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139759725	chr6:37451099-37451100	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13220464	chr6:37451107-37451108	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs144187156	chr6:37451109-37451110	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76904111	chr6:37451111-37451112	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375548128	chr6:37451113-37451114	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571225037	chr6:37451120-37451121	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537578860	chr6:37451132-37451133	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534006608	chr6:37451137-37451138	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557713753	chr6:37451143-37451144	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553579160	chr6:37451149-37451150	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145202609	chr6:37451166-37451167	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536187712	chr6:37451185-37451186	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571179123	chr6:37451204-37451205	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113562093	chr6:37451292-37451293	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576032589	chr6:37451298-37451299	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148726002	chr6:37451350-37451351	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377248541	chr6:37451355-37451356	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559029263	chr6:37451431-37451432	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187199175	chr6:37451452-37451453	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541490770	chr6:37451476-37451477	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561509711	chr6:37451507-37451508	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:249 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37424600-37451600	Strong transcription	Fetal Thymus	thymus
2	chr6:37435800-37452000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr6:37436200-37457200	Strong transcription	Primary T cells from cord blood	blood
4	chr6:37436400-37454600	Strong transcription	Thymus	Thymus
5	chr6:37436600-37452000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:37436600-37452000	Strong transcription	Fetal Lung	lung
7	chr6:37436800-37451800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr6:37436800-37452200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:37437000-37451800	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:37437400-37454400	Strong transcription	Dnd41	blood
11	chr6:37437600-37451400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:37437600-37451800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr6:37437600-37452000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr6:37437800-37451600	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr6:37438000-37451600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:37438000-37454600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:37438200-37451600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:37438200-37451600	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr6:37438200-37451800	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:37438200-37452000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:37438200-37452000	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr6:37438200-37452400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:37438200-37454400	Strong transcription	Placenta	Placenta
24	chr6:37438400-37451000	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr6:37438400-37451200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr6:37438400-37451400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr6:37438400-37451400	Strong transcription	Colonic Mucosa	Colon
28	chr6:37438400-37451600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
29	chr6:37438400-37451800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr6:37438400-37452000	Strong transcription	Aorta	Aorta
31	chr6:37438400-37452000	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr6:37438400-37453400	Strong transcription	Fetal Intestine Large	intestine
33	chr6:37438600-37451800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:37438600-37453000	Strong transcription	Lung	lung
35	chr6:37438600-37454600	Strong transcription	Spleen	Spleen
36	chr6:37439000-37452000	Strong transcription	Ovary	ovary
37	chr6:37439000-37452200	Strong transcription	HepG2	liver
38	chr6:37439200-37451600	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr6:37439200-37452000	Strong transcription	Pancreas	Pancrea
40	chr6:37439200-37453000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:37439200-37456400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:37439200-37456400	Strong transcription	Fetal Intestine Small	intestine
43	chr6:37439400-37452200	Strong transcription	NHLF	lung
44	chr6:37440800-37451200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:37441600-37452000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr6:37441800-37451000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:37441800-37451000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:37441800-37451400	Strong transcription	Brain Hippocampus Middle	brain
49	chr6:37441800-37451800	Strong transcription	Liver	Liver
50	chr6:37441800-37452000	Strong transcription	Esophagus	oesophagus

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