Variant report

Variant	rs3176344
Chromosome Location	chr6:36650547-36650548
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36631889..36633994-chr6:36649894..36652299,3	K562	blood:
2	chr12:81050417..81052003-chr6:36650116..36652674,2	MCF-7	breast:
3	chr6:36589971..36596625-chr6:36645571..36650576,10	K562	blood:
4	chr6:36644838..36653438-chr6:36718524..36730954,23	MCF-7	breast:
5	chr6:36561682..36564550-chr6:36650223..36652038,2	K562	blood:
6	chr6:36577436..36580901-chr6:36648470..36651354,3	K562	blood:
7	chr6:36581224..36597272-chr6:36642199..36659412,120	MCF-7	breast:
8	chr6:36649873..36651499-chr6:36688995..36691220,2	MCF-7	breast:
9	chr6:36649100..36652081-chr6:36702052..36705068,3	MCF-7	breast:
10	chr6:36645102..36656546-chr6:36717974..36730993,29	MCF-7	breast:
11	chr6:36650316..36652178-chr6:36659155..36660681,2	MCF-7	breast:
12	chr6:36648865..36650746-chr6:36679299..36682231,2	K562	blood:
13	chr6:36650062..36652279-chr6:36667260..36670117,2	MCF-7	breast:
14	chr6:36650057..36652668-chr6:36663338..36666266,2	K562	blood:
15	chr6:36648503..36650842-chr6:36690770..36692686,2	MCF-7	breast:
16	chr6:36649332..36651548-chr6:36829968..36831540,2	MCF-7	breast:
17	chr6:36589213..36595227-chr6:36645571..36651666,9	K562	blood:
18	chr6:36581748..36603537-chr6:36641861..36652365,77	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000220349	Chromatin interaction
ENSG00000124772	Chromatin interaction
ENSG00000263894	Chromatin interaction
ENSG00000112081	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11751790	1.00[YRI][hapmap]
rs11751844	1.00[YRI][hapmap]
rs11756425	1.00[YRI][hapmap]
rs11758807	1.00[YRI][hapmap]
rs11963372	1.00[ASN][1000 genomes]
rs2007290	1.00[YRI][hapmap]
rs2071822	1.00[YRI][hapmap]
rs2071823	1.00[YRI][hapmap]
rs3213536	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs4711470	1.00[YRI][hapmap]
rs4714015	1.00[YRI][hapmap]
rs61201423	1.00[ASN][1000 genomes]
rs9368963	1.00[YRI][hapmap]
rs9368965	1.00[YRI][hapmap]
rs9380603	1.00[YRI][hapmap]
rs9380607	1.00[YRI][hapmap]
rs9380614	1.00[YRI][hapmap]
rs9394387	1.00[YRI][hapmap]

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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36646600-36651800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:36648600-36651000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:36648600-36651800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:36648800-36651600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr6:36648800-36652400	Enhancers	Primary hematopoietic stem cells	blood
6	chr6:36648800-36653000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:36649000-36650600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr6:36649000-36650800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr6:36649000-36650800	Enhancers	Fetal Muscle Trunk	muscle
10	chr6:36649000-36650800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr6:36649000-36650800	Enhancers	K562	blood
12	chr6:36649000-36651000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:36649000-36651200	Weak transcription	Fetal Stomach	stomach
14	chr6:36649000-36651800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:36649000-36651800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:36649000-36651800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:36649000-36651800	Weak transcription	Brain Substantia Nigra	brain
18	chr6:36649000-36651800	Genic enhancers	Fetal Intestine Small	intestine
19	chr6:36649000-36652000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr6:36649000-36652000	Weak transcription	Brain Angular Gyrus	brain
21	chr6:36649000-36654200	Weak transcription	Brain Hippocampus Middle	brain
22	chr6:36649000-36654600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:36649200-36651000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
24	chr6:36649400-36652400	Enhancers	Fetal Thymus	thymus
25	chr6:36649400-36654200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:36649600-36650600	Enhancers	Stomach Mucosa	stomach
27	chr6:36649600-36650600	Transcr. at gene 5' and 3'	HSMM	muscle
28	chr6:36649600-36650800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:36649600-36650800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:36649600-36650800	Enhancers	Psoas Muscle	Psoas
31	chr6:36649600-36650800	Enhancers	Small Intestine	intestine
32	chr6:36649600-36650800	Flanking Active TSS	Hela-S3	cervix
33	chr6:36649600-36651200	Transcr. at gene 5' and 3'	Osteobl	bone
34	chr6:36649600-36651400	Enhancers	Placenta	Placenta
35	chr6:36649600-36651600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:36649600-36651600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:36649600-36651600	Enhancers	Pancreas	Pancrea
38	chr6:36649600-36651600	Enhancers	Thymus	Thymus
39	chr6:36649600-36651800	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr6:36649600-36651800	Enhancers	Fetal Heart	heart
41	chr6:36649600-36652000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr6:36649600-36652200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:36649600-36652600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:36649800-36650600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr6:36649800-36650600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr6:36649800-36650600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr6:36649800-36650600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
48	chr6:36649800-36650600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr6:36649800-36650600	Flanking Active TSS	Dnd41	blood
50	chr6:36649800-36650800	Enhancers	Gastric	stomach

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