Variant report

Variant	rs3176336
Chromosome Location	chr6:36648816-36648817
allele	A/T
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36592351..36593048-chr6:36648313..36648819,2	K562	blood:
2	chr6:36578466..36580870-chr6:36647924..36649824,2	MCF-7	breast:
3	chr6:36646638..36649501-chr6:36950264..36953112,2	MCF-7	breast:
4	chr6:36589971..36596625-chr6:36645571..36650576,10	K562	blood:
5	chr6:36644838..36653438-chr6:36718524..36730954,23	MCF-7	breast:
6	chr6:36564965..36566976-chr6:36648126..36649999,2	K562	blood:
7	chr6:36577436..36580901-chr6:36648470..36651354,3	K562	blood:
8	chr6:36581224..36597272-chr6:36642199..36659412,120	MCF-7	breast:
9	chr6:36560711..36564837-chr6:36645733..36649715,9	K562	blood:
10	chr6:36560285..36563984-chr6:36645642..36649715,8	K562	blood:
11	chr6:36559895..36571260-chr6:36642384..36648914,19	MCF-7	breast:
12	chr6:36645102..36656546-chr6:36717974..36730993,29	MCF-7	breast:
13	chr6:36590986..36591856-chr6:36647878..36648875,10	K562	blood:
14	chr6:36648503..36650842-chr6:36690770..36692686,2	MCF-7	breast:
15	chr6:36590922..36591850-chr6:36647865..36648817,7	MCF-7	breast:
16	chr6:36646719..36650011-chr6:36657952..36660291,4	MCF-7	breast:
17	chr6:36570219..36573404-chr6:36646918..36650255,3	K562	blood:
18	chr6:36647044..36648855-chr6:36663270..36664993,2	MCF-7	breast:
19	chr6:36571904..36574235-chr6:36647480..36649037,2	K562	blood:
20	chr6:36518339..36520561-chr6:36646946..36648999,2	K562	blood:
21	chr6:36589213..36595227-chr6:36645571..36651666,9	K562	blood:
22	chr6:36560169..36564521-chr6:36645252..36648947,8	MCF-7	breast:
23	chr6:36581748..36603537-chr6:36641861..36652365,77	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000263894	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000124772	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12211305	0.80[EUR][1000 genomes]
rs1321308	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1321309	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2395655	0.81[EUR][1000 genomes]
rs3176337	0.96[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3829964	0.84[AFR][1000 genomes];0.84[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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36646000-36649000	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr6:36646000-36650200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr6:36646200-36649000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr6:36646200-36649000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:36646200-36649000	Active TSS	Esophagus	oesophagus
6	chr6:36646200-36649000	Active TSS	Ovary	ovary
7	chr6:36646200-36649000	Flanking Bivalent TSS/Enh	Dnd41	blood
8	chr6:36646200-36649600	Active TSS	HSMM	muscle
9	chr6:36646200-36649800	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr6:36646200-36650200	Active TSS	HSMMtube	muscle
11	chr6:36646400-36649000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:36646400-36649000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr6:36646400-36649000	Active TSS	Gastric	stomach
14	chr6:36646600-36651800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:36646800-36649000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:36647600-36649200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:36647800-36649000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
18	chr6:36648000-36649000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr6:36648000-36649000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:36648000-36649200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:36648200-36649000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
22	chr6:36648200-36649000	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:36648200-36649000	Enhancers	Spleen	Spleen
24	chr6:36648200-36649000	Flanking Active TSS	HepG2	liver
25	chr6:36648400-36649000	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
26	chr6:36648400-36649000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:36648400-36649000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
28	chr6:36648400-36649000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:36648400-36649000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:36648400-36649000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:36648400-36649000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:36648400-36649000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr6:36648400-36649000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr6:36648400-36649000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:36648400-36649000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr6:36648400-36649000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:36648400-36649000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr6:36648400-36649000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr6:36648400-36649000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:36648400-36649000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
41	chr6:36648400-36649000	Flanking Active TSS	Liver	Liver
42	chr6:36648400-36649000	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr6:36648400-36649000	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr6:36648400-36649000	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr6:36648400-36649000	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr6:36648400-36649000	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr6:36648400-36649000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr6:36648400-36649000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr6:36648400-36649000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr6:36648400-36649000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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