Variant report

Variant	rs72943438
Chromosome Location	chr6:106592836-106592837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:106587956..106591795-chr6:106592518..106598079,7	K562	blood:
2	chr6:106590295..106592947-chr6:106593391..106597445,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17586975	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72943425	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs742109	0.83[ASN][1000 genomes]
rs9373832	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
12	nsv1019265	chr6:106587627-106727591	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv538402	chr6:106587627-106727591	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106583200-106593600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:106584400-106593600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:106588600-106594000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr6:106588600-106594200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:106589400-106593600	Weak transcription	HMEC	breast
6	chr6:106589600-106593000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:106590200-106593600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:106590600-106593000	Enhancers	GM12878-XiMat	blood
9	chr6:106590600-106593200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:106590600-106593400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:106590600-106593400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr6:106590600-106593400	Weak transcription	NHEK	skin
13	chr6:106590800-106593200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:106590800-106593600	Weak transcription	NHDF-Ad	bronchial
15	chr6:106590800-106594800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:106591000-106594200	Weak transcription	HSMMtube	muscle
17	chr6:106591000-106594800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:106591200-106593000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr6:106591200-106593200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr6:106591200-106594800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:106591400-106593200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:106591800-106593200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:106592000-106593000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr6:106592000-106593600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr6:106592000-106593600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:106592600-106593000	Enhancers	Primary T cells from cord blood	blood
27	chr6:106592600-106593800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr6:106592600-106593800	Enhancers	Fetal Thymus	thymus
29	chr6:106592800-106593000	Enhancers	Fetal Heart	heart
30	chr6:106592800-106593000	Enhancers	Thymus	Thymus
31	chr6:106592800-106593600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:106592800-106593800	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr6:106592800-106594000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:106592800-106594000	Enhancers	K562	blood
35	chr6:106592800-106594400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:106592800-106594400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:106592800-106594400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr6:106592800-106595200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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