Variant report

Variant	rs2296575
Chromosome Location	chr6:34497967-34497968
allele	C/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: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	chr6:34496704..34498115-chr6:34576145..34578099,12	MCF-7	breast:
2	chr6:34497164..34498159-chr6:34514567..34515376,2	MCF-7	breast:
3	chr6:34495679..34498360-chr6:34503054..34505628,3	MCF-7	breast:
4	chr6:34496932..34498060-chr6:34528153..34529212,4	MCF-7	breast:
5	chr6:34496034..34498791-chr6:34510835..34512433,2	K562	blood:
6	chr6:34493632..34501782-chr6:34512451..34525873,25	MCF-7	breast:
7	chr6:34427418..34428084-chr6:34497140..34498209,3	MCF-7	breast:
8	chr6:34497242..34499881-chr6:34564591..34566557,2	MCF-7	breast:
9	chr6:34494049..34496847-chr6:34497897..34503319,6	K562	blood:
10	chr6:34497355..34498033-chr6:34557195..34557723,2	MCF-7	breast:
11	chr6:34392363..34395361-chr6:34495918..34498856,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124614	Chromatin interaction
ENSG00000124664	Chromatin interaction
ENSG00000270800	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11754548	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11756280	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11756281	0.94[ASN][1000 genomes]
rs11758420	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11758426	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11758471	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1886980	0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs2233637	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2233639	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2233647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2282249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2282251	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2282252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2395595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2395596	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3734362	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778069	0.96[ASN][1000 genomes]
rs3778071	0.96[ASN][1000 genomes]
rs3778075	0.94[ASN][1000 genomes]
rs3798544	0.82[CHB][hapmap]
rs3798546	0.94[ASN][1000 genomes]
rs3798549	0.94[ASN][1000 genomes]
rs3798551	0.98[ASN][1000 genomes]
rs3798552	0.98[ASN][1000 genomes]
rs3800466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3822986	0.94[ASN][1000 genomes]
rs3945698	0.96[ASN][1000 genomes]
rs55660517	0.90[ASN][1000 genomes]
rs56781192	0.96[ASN][1000 genomes]
rs59316688	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59738570	0.90[ASN][1000 genomes]
rs59778290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60358080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61453687	0.96[ASN][1000 genomes]
rs7754038	0.94[ASN][1000 genomes]
rs7763757	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs913017	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv885786	chr6:34426884-34542662	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	esv1813536	chr6:34455242-34545123	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv885787	chr6:34458533-34546560	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv885788	chr6:34464010-34551912	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv885789	chr6:34474939-34546560	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
12	nsv1033325	chr6:34482287-34517857	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv885790	chr6:34483015-34542662	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
14	nsv885791	chr6:34483015-34546560	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
15	nsv516578	chr6:34483015-34561585	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
16	nsv1022555	chr6:34488209-34517003	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	esv1801907	chr6:34492567-34545860	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
18	nsv1026919	chr6:34495371-34517857	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
19	nsv1016788	chr6:34496002-34529165	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34495000-34504000	Weak transcription	Fetal Brain Male	brain
2	chr6:34495400-34499200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr6:34495400-34499200	Weak transcription	Ovary	ovary
4	chr6:34495400-34501200	Weak transcription	Spleen	Spleen
5	chr6:34495400-34502000	Weak transcription	HSMMtube	muscle
6	chr6:34495400-34503000	Weak transcription	Brain Angular Gyrus	brain
7	chr6:34495400-34503800	Weak transcription	Brain Substantia Nigra	brain
8	chr6:34495400-34504200	Weak transcription	Left Ventricle	heart
9	chr6:34495400-34504600	Weak transcription	Right Atrium	heart
10	chr6:34495400-34506600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr6:34495600-34499000	Weak transcription	Fetal Thymus	thymus
12	chr6:34495600-34499200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr6:34495600-34499200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:34495600-34499200	Weak transcription	Fetal Intestine Small	intestine
15	chr6:34495800-34499000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr6:34495800-34499200	Weak transcription	Fetal Kidney	kidney
17	chr6:34495800-34503000	Weak transcription	Brain Anterior Caudate	brain
18	chr6:34495800-34503800	Weak transcription	Fetal Lung	lung
19	chr6:34495800-34505200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:34496000-34499200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr6:34496200-34498200	Weak transcription	K562	blood
22	chr6:34496200-34498800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:34496200-34499000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:34496200-34499200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:34496200-34499200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:34496200-34499200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:34496600-34499000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:34496600-34499200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr6:34496800-34498200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr6:34497200-34498400	Enhancers	Duodenum Mucosa	Duodenum
31	chr6:34497200-34498400	Enhancers	Fetal Heart	heart
32	chr6:34497200-34498400	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr6:34497200-34498600	Enhancers	Liver	Liver
34	chr6:34497400-34498200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:34497400-34498200	Enhancers	A549	lung
36	chr6:34497400-34499400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:34497600-34498200	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:34497600-34498200	Enhancers	Brain Germinal Matrix	brain
39	chr6:34497600-34498200	Enhancers	Lung	lung
40	chr6:34497600-34498200	Enhancers	Right Ventricle	heart
41	chr6:34497600-34498200	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr6:34497600-34498400	Enhancers	Pancreas	Pancrea
43	chr6:34497600-34498400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr6:34497600-34498400	Bivalent Enhancer	HepG2	liver
45	chr6:34497600-34499200	Weak transcription	Fetal Brain Female	brain
46	chr6:34497800-34498400	Enhancers	Colonic Mucosa	Colon
47	chr6:34497800-34499000	Enhancers	Gastric	stomach
48	chr6:34497800-34499200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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