Variant report

Variant	esv3385809
Chromosome Location	chr6:37141637-37142129
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37140835..37143675-chr6:37158995..37161367,4	K562	blood:
2	chr6:37019401..37019905-chr6:37140779..37141669,2	K562	blood:
3	chr6:37140365..37143420-chr6:37160123..37163963,3	MCF-7	breast:
4	chr6:36990515..36993191-chr6:37140306..37142032,2	K562	blood:
5	chr6:36986660..36989321-chr6:37140588..37143469,2	K562	blood:
6	chr6:36986704..36989581-chr6:37141557..37144395,2	K562	blood:
7	chr6:36985904..36987716-chr6:37141908..37143451,2	MCF-7	breast:
8	chr12:54826068..54826922-chr6:37141901..37142869,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000146192	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142234876	chr6:37141645-37141646	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs34196025	chr6:37141672-37141673	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs57187090	chr6:37141696-37141697	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs144132371	chr6:37141765-37141766	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs148258857	chr6:37141768-37141769	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141695323	chr6:37141770-37141771	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369630887	chr6:37141805-37141806	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373550823	chr6:37141808-37141809	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs9349029	chr6:37141824-37141825	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs199624946	chr6:37141830-37141831	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377586924	chr6:37141848-37141849	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs146334836	chr6:37141849-37141850	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531611030	chr6:37141851-37141852	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs139582752	chr6:37141852-37141853	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs36084391	chr6:37141856-37141857	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs9470511	chr6:37141881-37141882	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs372654908	chr6:37141896-37141897	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373689005	chr6:37141908-37141909	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs367733847	chr6:37141909-37141910	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs371684650	chr6:37141913-37141914	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs559365974	chr6:37141955-37141956	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs528554956	chr6:37141960-37141961	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs35111462	chr6:37141961-37141962	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs12197850	chr6:37141962-37141963	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530980474	chr6:37141982-37141983	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs34646865	chr6:37142017-37142018	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs2070892	chr6:37142034-37142035	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs72552389	chr6:37142110-37142111	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

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
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37138000-37143200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
2	chr6:37138200-37142000	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr6:37138200-37143400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr6:37138200-37143400	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr6:37138200-37143800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
6	chr6:37138200-37144000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
7	chr6:37138600-37143600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:37138600-37144400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
9	chr6:37138800-37141800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
10	chr6:37138800-37142800	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
11	chr6:37138800-37144000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:37138800-37145000	Transcr. at gene 5' and 3'	K562	blood
13	chr6:37139000-37143200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
14	chr6:37139000-37143600	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
15	chr6:37139800-37143200	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
16	chr6:37140000-37144000	Weak transcription	HSMM	muscle
17	chr6:37140200-37142400	Transcr. at gene 5' and 3'	HepG2	liver
18	chr6:37140200-37142600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:37140200-37142600	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
20	chr6:37140200-37142600	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
21	chr6:37140200-37143000	Transcr. at gene 5' and 3'	Esophagus	oesophagus
22	chr6:37140200-37143200	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:37140200-37143600	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:37140200-37143600	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:37140200-37143800	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
26	chr6:37140400-37141800	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
27	chr6:37140400-37142600	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
28	chr6:37140400-37142600	Strong transcription	Fetal Kidney	kidney
29	chr6:37140400-37142600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
30	chr6:37140400-37143000	Strong transcription	Aorta	Aorta
31	chr6:37140400-37143200	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr6:37140400-37143200	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
33	chr6:37140400-37143400	Genic enhancers	Primary B cells from peripheral blood	blood
34	chr6:37140400-37143400	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:37140400-37143400	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
36	chr6:37140600-37141800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr6:37140600-37141800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:37140600-37141800	Weak transcription	Psoas Muscle	Psoas
39	chr6:37140600-37141800	Genic enhancers	Stomach Mucosa	stomach
40	chr6:37140600-37142000	Genic enhancers	Fetal Muscle Leg	muscle
41	chr6:37140600-37142000	Genic enhancers	Spleen	Spleen
42	chr6:37140600-37142600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:37140600-37142600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:37140600-37142600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr6:37140600-37142600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:37140600-37142600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:37140600-37142600	Genic enhancers	Colon Smooth Muscle	Colon
48	chr6:37140600-37142800	Strong transcription	HSMMtube	muscle
49	chr6:37140600-37143000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:37140600-37143000	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood

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