Variant report

Variant	rs41312309
Chromosome Location	chr6:34498328-34498329
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34498077..34501386-chr6:34521162..34524580,5	MCF-7	breast:
2	chr6:34495679..34498360-chr6:34503054..34505628,3	MCF-7	breast:
3	chr6:34496034..34498791-chr6:34510835..34512433,2	K562	blood:
4	chr6:34493632..34501782-chr6:34512451..34525873,25	MCF-7	breast:
5	chr6:34498308..34501187-chr6:34577541..34579069,2	MCF-7	breast:
6	chr6:34497242..34499881-chr6:34564591..34566557,2	MCF-7	breast:
7	chr6:34494049..34496847-chr6:34497897..34503319,6	K562	blood:
8	chr6:34494545..34497462-chr6:34498275..34503019,6	MCF-7	breast:
9	chr6:34392363..34395361-chr6:34495918..34498856,2	K562	blood:

No data

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

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11753634	1.00[ASN][1000 genomes]
rs11754548	0.85[EUR][1000 genomes]
rs11756280	0.85[EUR][1000 genomes]
rs11758326	1.00[ASN][1000 genomes]
rs11758420	0.83[EUR][1000 genomes]
rs11758426	0.85[EUR][1000 genomes]
rs11758471	0.85[EUR][1000 genomes]
rs11758529	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35429796	1.00[ASN][1000 genomes]
rs6919434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405691	1.00[ASN][1000 genomes]
rs73407707	1.00[ASN][1000 genomes]
rs7754038	0.85[EUR][1000 genomes]
rs9469801	0.83[EUR][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:44 , 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	chr6:34496200-34498800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr6:34496200-34499000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:34496200-34499200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:34496200-34499200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr6:34496200-34499200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:34496600-34499000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:34496600-34499200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr6:34497200-34498400	Enhancers	Duodenum Mucosa	Duodenum
29	chr6:34497200-34498400	Enhancers	Fetal Heart	heart
30	chr6:34497200-34498400	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr6:34497200-34498600	Enhancers	Liver	Liver
32	chr6:34497400-34499400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:34497600-34498400	Enhancers	Pancreas	Pancrea
34	chr6:34497600-34498400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr6:34497600-34498400	Bivalent Enhancer	HepG2	liver
36	chr6:34497600-34499200	Weak transcription	Fetal Brain Female	brain
37	chr6:34497800-34498400	Enhancers	Colonic Mucosa	Colon
38	chr6:34497800-34499000	Enhancers	Gastric	stomach
39	chr6:34497800-34499200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:34498200-34499400	Enhancers	K562	blood
41	chr6:34498200-34503000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:34498200-34503000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:34498200-34503600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr6:34498200-34514200	Weak transcription	Right Ventricle	heart

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