Variant report

Variant	rs4946728
Chromosome Location	chr6:106590363-106590364
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:106554917..106557278-chr6:106588143..106590911,3	K562	blood:
2	chr6:106587956..106591795-chr6:106592518..106598079,7	K562	blood:
3	chr6:106590295..106592947-chr6:106593391..106597445,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11152966	0.82[AFR][1000 genomes]
rs2179175	0.81[EUR][1000 genomes]
rs6568432	0.81[EUR][1000 genomes]
rs7759385	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106583200-106593600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:106583800-106590600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:106584400-106593600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:106586600-106590400	Weak transcription	Placenta	Placenta
5	chr6:106588600-106591200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:106588600-106592000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr6:106588600-106594000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr6:106588600-106594200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:106588800-106590400	Weak transcription	NHDF-Ad	bronchial
10	chr6:106588800-106590600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:106588800-106592000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr6:106589000-106590400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:106589200-106590400	Enhancers	Fetal Heart	heart
14	chr6:106589200-106590400	Enhancers	Left Ventricle	heart
15	chr6:106589200-106590600	Enhancers	Spleen	Spleen
16	chr6:106589200-106590600	Enhancers	K562	blood
17	chr6:106589200-106590600	Enhancers	NHEK	skin
18	chr6:106589200-106590800	Enhancers	Primary B cells from cord blood	blood
19	chr6:106589200-106590800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr6:106589200-106590800	Enhancers	Dnd41	blood
21	chr6:106589200-106591000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:106589200-106591000	Enhancers	HSMMtube	muscle
23	chr6:106589200-106591200	Enhancers	Primary B cells from peripheral blood	blood
24	chr6:106589200-106591200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr6:106589200-106591200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr6:106589200-106591200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:106589200-106591200	Enhancers	Duodenum Mucosa	Duodenum
28	chr6:106589200-106591400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:106589200-106591600	Enhancers	Fetal Muscle Leg	muscle
30	chr6:106589200-106592200	Enhancers	Primary T cells from cord blood	blood
31	chr6:106589200-106592200	Enhancers	Fetal Thymus	thymus
32	chr6:106589400-106590600	Enhancers	Primary hematopoietic stem cells	blood
33	chr6:106589400-106590600	Enhancers	Psoas Muscle	Psoas
34	chr6:106589400-106590800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr6:106589400-106593600	Weak transcription	HMEC	breast
36	chr6:106589600-106590400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:106589600-106590600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:106589600-106593000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:106589800-106590400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr6:106590000-106590600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:106590000-106590600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr6:106590000-106590600	Enhancers	Esophagus	oesophagus
43	chr6:106590000-106590600	Flanking Active TSS	GM12878-XiMat	blood
44	chr6:106590000-106590800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:106590000-106590800	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr6:106590000-106591000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:106590000-106591200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr6:106590000-106591200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr6:106590000-106591400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr6:106590200-106590600	Enhancers	Rectal Mucosa Donor 31	rectum

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