Variant report

Variant	rs3176330
Chromosome Location	chr6:36647490-36647491
allele	A/G
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36645391..36647920-chr6:36680659..36684331,3	MCF-7	breast:
2	chr17:41437979..41438687-chr6:36647348..36648127,2	Hela-S3	cervix:
3	chr12:56521584..56522392-chr6:36646827..36647782,2	HCT-116	colon:
4	chr6:36646638..36649501-chr6:36950264..36953112,2	MCF-7	breast:
5	chr6:36589971..36596625-chr6:36645571..36650576,10	K562	blood:
6	chr17:56708601..56709445-chr6:36647024..36647582,2	Hela-S3	cervix:
7	chr17:57914670..57916833-chr6:36645394..36647964,3	MCF-7	breast:
8	chr6:36644838..36653438-chr6:36718524..36730954,23	MCF-7	breast:
9	chr6:36644040..36648031-chr6:36680924..36685784,5	MCF-7	breast:
10	chr6:36646643..36648189-chr6:36817431..36818959,2	MCF-7	breast:
11	chr17:56707748..56709290-chr6:36645821..36647810,2	MCF-7	breast:
12	chr6:36581224..36597272-chr6:36642199..36659412,120	MCF-7	breast:
13	chr6:36560711..36564837-chr6:36645733..36649715,9	K562	blood:
14	chr6:36560285..36563984-chr6:36645642..36649715,8	K562	blood:
15	chr6:36634794..36635467-chr6:36647053..36647864,2	MCF-7	breast:
16	chr6:36559895..36571260-chr6:36642384..36648914,19	MCF-7	breast:
17	chr6:36606453..36608701-chr6:36645452..36648033,2	MCF-7	breast:
18	chr6:36646585..36648136-chr6:36723645..36726426,2	K562	blood:
19	chr6:36640651..36642338-chr6:36646391..36648359,2	K562	blood:
20	chr6:36645102..36656546-chr6:36717974..36730993,29	MCF-7	breast:
21	chr6:36646719..36650011-chr6:36657952..36660291,4	MCF-7	breast:
22	chr6:36570219..36573404-chr6:36646918..36650255,3	K562	blood:
23	chr6:36647044..36648855-chr6:36663270..36664993,2	MCF-7	breast:
24	chr6:36571904..36574235-chr6:36647480..36649037,2	K562	blood:
25	chr6:36518339..36520561-chr6:36646946..36648999,2	K562	blood:
26	chr6:36590906..36591946-chr6:36647029..36648637,8	MCF-7	breast:
27	chr6:36589213..36595227-chr6:36645571..36651666,9	K562	blood:
28	chr6:36560169..36564521-chr6:36645252..36648947,8	MCF-7	breast:
29	chr6:36581748..36603537-chr6:36641861..36652365,77	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255587	Chromatin interaction
ENSG00000213500	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000238554	Chromatin interaction
ENSG00000124772	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000263894	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1321312	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1969701	0.92[ASN][1000 genomes]
rs1977172	0.91[ASN][1000 genomes]
rs3176331	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3829966	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3829967	0.99[ASN][1000 genomes]
rs3829968	0.96[ASN][1000 genomes]
rs4135234	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4135237	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4135239	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4713997	0.92[ASN][1000 genomes]
rs4714000	0.96[ASN][1000 genomes]
rs6457936	0.96[ASN][1000 genomes]
rs6902994	0.83[ASN][1000 genomes]
rs6907801	0.92[ASN][1000 genomes]
rs6926780	0.92[ASN][1000 genomes]
rs7452626	0.96[ASN][1000 genomes]
rs762623	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9380585	0.92[ASN][1000 genomes]
rs9380586	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031191	chr6:36588974-36718015	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv538201	chr6:36588974-36718015	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv885807	chr6:36645696-36651889	Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
4	nsv602948	chr6:36646788-36651889	Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
5	nsv602949	chr6:36646788-36652067	Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36644200-36647600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:36645600-36648600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr6:36646000-36647600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr6:36646000-36647800	Bivalent Enhancer	Fetal Brain Male	brain
5	chr6:36646000-36648000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:36646000-36648000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr6:36646000-36648000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr6:36646000-36648400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:36646000-36648400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:36646000-36648600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
11	chr6:36646000-36648600	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr6:36646000-36648800	Active TSS	Aorta	Aorta
13	chr6:36646000-36648800	Active TSS	Psoas Muscle	Psoas
14	chr6:36646000-36649000	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr6:36646000-36650200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr6:36646200-36647600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr6:36646200-36647600	Flanking Bivalent TSS/Enh	Thymus	Thymus
18	chr6:36646200-36648000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr6:36646200-36648200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:36646200-36648400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:36646200-36648400	Active TSS	Muscle Satellite Cultured Cells	--
22	chr6:36646200-36648400	Active TSS	Liver	Liver
23	chr6:36646200-36648400	Active TSS	Brain Angular Gyrus	brain
24	chr6:36646200-36648400	Active TSS	Hela-S3	cervix
25	chr6:36646200-36648400	Active TSS	NHDF-Ad	bronchial
26	chr6:36646200-36648400	Active TSS	Osteobl	bone
27	chr6:36646200-36648600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:36646200-36648600	Active TSS	Brain Anterior Caudate	brain
29	chr6:36646200-36648600	Active TSS	Colon Smooth Muscle	Colon
30	chr6:36646200-36648600	Active TSS	Duodenum Mucosa	Duodenum
31	chr6:36646200-36648600	Active TSS	Fetal Kidney	kidney
32	chr6:36646200-36648600	Active TSS	A549	lung
33	chr6:36646200-36648600	Active TSS	HUVEC	blood vessel
34	chr6:36646200-36648800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr6:36646200-36648800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
36	chr6:36646200-36648800	Active TSS	Right Ventricle	heart
37	chr6:36646200-36649000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr6:36646200-36649000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr6:36646200-36649000	Active TSS	Esophagus	oesophagus
40	chr6:36646200-36649000	Active TSS	Ovary	ovary
41	chr6:36646200-36649000	Flanking Bivalent TSS/Enh	Dnd41	blood
42	chr6:36646200-36649600	Active TSS	HSMM	muscle
43	chr6:36646200-36649800	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr6:36646200-36650200	Active TSS	HSMMtube	muscle
45	chr6:36646400-36647600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr6:36646400-36647600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr6:36646400-36648000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
48	chr6:36646400-36648000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr6:36646400-36648400	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr6:36646400-36648400	Active TSS	Small Intestine	intestine

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