Variant report

Variant	nsv526235
Chromosome Location	chr6:31496915-31497399
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31495344..31498264-chr6:31630144..31631668,2	K562	blood:
2	chr6:31496727..31498711-chr6:31590838..31593698,2	K562	blood:
3	chr6:30582838..30585806-chr6:31497369..31500539,3	K562	blood:
4	chr6:31494838..31496552-chr6:31497130..31499427,2	MCF-7	breast:
5	chr6:31495666..31498592-chr6:31587530..31589995,2	K562	blood:
6	chr6:31464473..31467635-chr6:31497399..31499705,3	K562	blood:
7	chr6:31495999..31499455-chr6:31625533..31627883,4	K562	blood:
8	chr11:62623008..62623857-chr6:31496676..31497457,2	NB4	blood:
9	chr6:31461526..31464326-chr6:31496464..31498692,2	K562	blood:
10	chr6:31461159..31464326-chr6:31493652..31499334,8	K562	blood:
11	chr6:31497072..31502351-chr6:31549039..31551366,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000204511	chromatin interactions
ENSG00000225499	chromatin interactions
ENSG00000227198	chromatin interactions
ENSG00000201207	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000227507	chromatin interactions
ENSG00000204568	chromatin interactions
ENSG00000255717	chromatin interactions
ENSG00000204516	chromatin interactions
ENSG00000200816	chromatin interactions
ENSG00000204469	chromatin interactions
ENSG00000168003	chromatin interactions
ENSG00000204569	chromatin interactions
ENSG00000201680	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2259435	chr6:31496915-31496916	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114009639	chr6:31496921-31496922	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs3093983	chr6:31496925-31496926	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs567268039	chr6:31496933-31496934	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs78957773	chr6:31496949-31496950	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs146505428	chr6:31496950-31496951	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs2286712	chr6:31496979-31496980	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs181613951	chr6:31496982-31496983	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs117941656	chr6:31496983-31496984	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs184818950	chr6:31496987-31496988	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs370197099	chr6:31497019-31497020	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs201843783	chr6:31497027-31497028	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs13206927	chr6:31497042-31497043	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs201829470	chr6:31497050-31497051	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs542729410	chr6:31497081-31497082	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs151191496	chr6:31497109-31497110	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs370665385	chr6:31497119-31497120	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs141468276	chr6:31497166-31497167	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs571256010	chr6:31497233-31497234	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs3093982	chr6:31497244-31497245	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs72847222	chr6:31497248-31497249	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs114064880	chr6:31497310-31497311	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs541614279	chr6:31497323-31497324	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs2734586	chr6:31497342-31497343	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs527346695	chr6:31497389-31497390	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs3130055	chr6:31497399-31497400	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:138)

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
Lung cancer	18438408	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
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	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
Myelofibrosis	22110671	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
Breast cancer	21364760	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
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD
Williams Syndrome	20824207	CNVD
Schizophrenia	21346763	CNVD
Nasopharyngeal cancer	20548289	CNVD
Nasopharyngeal cancer	20551993	CNVD
Type 2 diabetes	21526130	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31467400-31506600	Weak transcription	Right Atrium	heart
2	chr6:31478200-31497200	Weak transcription	A549	lung
3	chr6:31478400-31497200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:31478400-31497800	Weak transcription	Primary B cells from cord blood	blood
5	chr6:31478400-31498200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:31478600-31498200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:31479200-31497400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:31479200-31497400	Weak transcription	Primary T cells from cord blood	blood
9	chr6:31479200-31497600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr6:31479400-31497000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:31479400-31497200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr6:31479400-31497400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:31479400-31497400	Weak transcription	Spleen	Spleen
14	chr6:31479600-31497600	Weak transcription	GM12878-XiMat	blood
15	chr6:31484400-31497200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:31485400-31497200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr6:31485400-31497200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr6:31490000-31497600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr6:31492800-31497400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr6:31492800-31497400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr6:31493000-31497000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:31493400-31497200	Weak transcription	Fetal Intestine Small	intestine
23	chr6:31493600-31497000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr6:31493600-31497200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr6:31493600-31497200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:31493600-31497200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr6:31493800-31497400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:31493800-31498000	Weak transcription	Small Intestine	intestine
29	chr6:31494000-31497200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:31494000-31497200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:31494000-31497200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr6:31494000-31497200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr6:31494000-31497400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:31494000-31497400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:31494000-31497400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:31494000-31497400	Weak transcription	Adipose Nuclei	Adipose
37	chr6:31494000-31497400	Weak transcription	Esophagus	oesophagus
38	chr6:31494000-31497400	Weak transcription	Placenta	Placenta
39	chr6:31494000-31497400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:31494000-31497800	Weak transcription	HSMM	muscle
41	chr6:31494200-31497200	Weak transcription	Right Ventricle	heart
42	chr6:31494200-31497400	Weak transcription	NH-A	brain
43	chr6:31494200-31497600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:31494200-31497800	Weak transcription	Hela-S3	cervix
45	chr6:31494200-31497800	Weak transcription	HMEC	breast
46	chr6:31494200-31497800	Weak transcription	NHDF-Ad	bronchial
47	chr6:31494200-31498400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:31494200-31498400	Weak transcription	Stomach Mucosa	stomach
49	chr6:31494400-31497200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr6:31494400-31497400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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