Variant report

Variant	nsv884720
Chromosome Location	chr6:32261653-32271807
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	chr6:32264476..32267942-chr6:32268038..32271496,3	K562	blood:
2	chr6:32260223..32261904-chr6:32262964..32264831,2	K562	blood:
3	chr6:32266172..32268310-chr6:32269017..32271310,2	MCF-7	breast:
4	chr6:32221059..32223929-chr6:32261762..32264103,2	MCF-7	breast:
5	chr6:32260223..32261904-chr6:32262964..32264831,2	K562	blood:
6	chr6:32259346..32261422-chr6:32263927..32266328,2	MCF-7	breast:
7	chr6:32266172..32268310-chr6:32269017..32271310,2	MCF-7	breast:
8	chr6:32260150..32262258-chr6:32267045..32269420,2	MCF-7	breast:
9	chr6:32260150..32262258-chr6:32267045..32269420,2	MCF-7	breast:
10	chr6:32264476..32267942-chr6:32268038..32271496,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225914	chromatin interactions

Extended variants
information (count: 334 )
Associated
traits (count: 130 )

Variant overlapped rSNPs/rCNVs (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139286311	chr6:32261713-32261714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143188052	chr6:32261728-32261729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145900218	chr6:32261755-32261756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138704487	chr6:32261764-32261765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560505	chr6:32261771-32261772	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs55987614	chr6:32261790-32261791	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs558302720	chr6:32261794-32261795	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376040919	chr6:32261815-32261816	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113851738	chr6:32261834-32261835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570467703	chr6:32261841-32261842	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370051348	chr6:32261843-32261844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144397119	chr6:32261869-32261870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs552597507	chr6:32261902-32261903	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs146647793	chr6:32261940-32261941	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs10947251	chr6:32261952-32261953	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs6919543	chr6:32261967-32261968	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs575471089	chr6:32261991-32261992	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs375212277	chr6:32261998-32261999	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs547958363	chr6:32262025-32262026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs545698306	chr6:32262057-32262058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568708530	chr6:32262140-32262141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs564267328	chr6:32262168-32262169	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs149221344	chr6:32262195-32262196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs4713519	chr6:32262263-32262264	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs187455000	chr6:32262320-32262321	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs4713520	chr6:32262340-32262341	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs6457535	chr6:32262406-32262407	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs140669783	chr6:32262482-32262483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs62403000	chr6:32262557-32262558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs6925335	chr6:32262597-32262598	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs578120947	chr6:32262650-32262651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs72310817	chr6:32262651-32262652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs537690805	chr6:32262655-32262656	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs567007086	chr6:32262666-32262667	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs6925532	chr6:32262703-32262704	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs11968795	chr6:32262733-32262734	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs6925556	chr6:32262746-32262747	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs535103043	chr6:32262770-32262771	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs117900424	chr6:32262880-32262881	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575462385	chr6:32262901-32262902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs529899946	chr6:32262908-32262909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs138708748	chr6:32262991-32262992	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs572982607	chr6:32263020-32263021	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs540763164	chr6:32263037-32263038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562140104	chr6:32263082-32263083	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs142835620	chr6:32263087-32263088	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs9268149	chr6:32263099-32263100	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs554429124	chr6:32263100-32263101	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs562829540	chr6:32263107-32263108	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201473295	chr6:32263111-32263112	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:130)

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
Lung cancer	18438408	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
Ependymoma	19289631	CNVD
Breast cancer	22844521	CNVD
Gestational infection	22844521	CNVD
HIV/AIDS	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Ovarian cancer	21781307	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	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
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	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
Urothelial carcinoma	21177765	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32259200-32266200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:32263800-32273400	Weak transcription	Ovary	ovary
3	chr6:32265400-32265600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:32265800-32266600	Enhancers	A549	lung
5	chr6:32265800-32267800	Enhancers	HepG2	liver
6	chr6:32266200-32267000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:32266400-32266600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:32266400-32266600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:32266400-32267000	Enhancers	Osteobl	bone
10	chr6:32266400-32267200	Enhancers	Hela-S3	cervix
11	chr6:32266600-32267000	Flanking Active TSS	A549	lung
12	chr6:32266800-32267200	Enhancers	HUVEC	blood vessel
13	chr6:32266800-32267200	Enhancers	NHDF-Ad	bronchial
14	chr6:32267000-32267400	Enhancers	A549	lung
15	chr6:32267200-32271600	Weak transcription	HUVEC	blood vessel
16	chr6:32270400-32273000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr6:32270600-32271200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:32270600-32273000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:32270800-32271800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:32270800-32272200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:32271000-32273000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr6:32271000-32273000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:32271200-32274000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:32271400-32272800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr6:32271600-32272000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr6:32271600-32272000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr6:32271600-32272000	Enhancers	HUVEC	blood vessel

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