Variant report

Variant	rs9480642
Chromosome Location	chr6:106574892-106574893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:106543479..106546710-chr6:106574822..106577513,3	K562	blood:
2	chr6:106574758..106578826-chr6:106580489..106584982,7	K562	blood:

Variant related genes	Relation type
ENSG00000057657	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11152965	0.96[EUR][1000 genomes]
rs11969705	0.95[ASN][1000 genomes]
rs58540441	0.95[ASN][1000 genomes]
rs60890632	0.94[ASN][1000 genomes]
rs61249140	0.94[ASN][1000 genomes]
rs6568429	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6910707	0.95[ASN][1000 genomes]
rs6921527	0.95[ASN][1000 genomes]
rs6921649	0.95[ASN][1000 genomes]
rs73772595	0.94[ASN][1000 genomes]
rs73772598	0.94[ASN][1000 genomes]
rs73772600	0.94[ASN][1000 genomes]
rs73772602	0.95[ASN][1000 genomes]
rs7742618	0.94[ASN][1000 genomes]
rs7752226	0.94[ASN][1000 genomes]
rs7759930	0.94[ASN][1000 genomes]
rs7774260	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9480643	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9480644	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9486284	0.89[ASN][1000 genomes]
rs9486285	0.99[EUR][1000 genomes]
rs9486287	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025231	chr6:106451012-106634389	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv830755	chr6:106461705-106624202	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv1832544	chr6:106539914-106642993	Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1035110	chr6:106557281-106802212	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv538400	chr6:106557281-106802212	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv1022855	chr6:106570926-106802072	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv538401	chr6:106570926-106802072	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106553600-106584000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:106568000-106576800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:106568600-106576800	Weak transcription	NHDF-Ad	bronchial
4	chr6:106568600-106577000	Weak transcription	HSMMtube	muscle
5	chr6:106568800-106578000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:106573800-106575000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr6:106574000-106577200	Weak transcription	Fetal Intestine Large	intestine
8	chr6:106574200-106575000	Enhancers	Small Intestine	intestine
9	chr6:106574400-106575000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr6:106574400-106577000	Weak transcription	Stomach Mucosa	stomach
11	chr6:106574400-106577400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:106574400-106577400	Weak transcription	Fetal Intestine Small	intestine
13	chr6:106574600-106575000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:106574600-106575000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr6:106574600-106575000	Enhancers	K562	blood
16	chr6:106574600-106576800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:106574600-106576800	Weak transcription	NHEK	skin
18	chr6:106574800-106575000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:106574800-106575000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:106574800-106575200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:106574800-106575400	Enhancers	GM12878-XiMat	blood
22	chr6:106574800-106576800	Weak transcription	Rectal Mucosa Donor 29	rectum

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