Variant report

Variant	rs6946415
Chromosome Location	chr7:150684548-150684549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr7:150684394-150687203	SK-N-SH	brain:	n/a	chr7:150685759-150685773 chr7:150685797-150685807 chr7:150684619-150684633 chr7:150684676-150684686 chr7:150686349-150686359

No.	Distal block	Cell Line	Cell type
1	chr7:150568033..150570583-chr7:150684396..150686354,2	MCF-7	breast:
2	chr7:150598664..150599298-chr7:150683919..150684824,2	K562	blood:
3	chr7:150682752..150684801-chr7:150777825..150779661,2	MCF-7	breast:
4	chr7:150669264..150677850-chr7:150681612..150689209,13	MCF-7	breast:

Variant related genes	Relation type
NOS3	TF binding region
ENSG00000055118	Chromatin interaction
ENSG00000164896	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11771808	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1800779	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1800781	0.91[ASN][1000 genomes]
rs1800783	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2070744	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2373962	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3793341	0.85[ASN][1000 genomes]
rs3793342	0.85[ASN][1000 genomes]
rs3807370	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3918169	0.85[ASN][1000 genomes]
rs4496877	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6951150	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6953274	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
4	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv889463	chr7:150640285-150700946	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh 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	21 gene(s)	inside rSNPs	diseases
7	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv889466	chr7:150642341-150687430	Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
9	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
12	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
13	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv889468	chr7:150652419-150696111	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
15	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv889470	chr7:150667210-150696111	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150676000-150685400	Weak transcription	Pancreas	Pancrea
2	chr7:150678200-150685400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:150680200-150685200	Weak transcription	Brain Angular Gyrus	brain
4	chr7:150683000-150684800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr7:150683000-150684800	Bivalent Enhancer	Placenta	Placenta
6	chr7:150683000-150685400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:150683000-150685400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr7:150683000-150685400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:150683000-150685600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr7:150683000-150685800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:150683000-150686200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:150683200-150685000	Weak transcription	Liver	Liver
13	chr7:150683200-150685200	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:150683200-150685400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr7:150683400-150685200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:150683400-150685400	Weak transcription	Brain Anterior Caudate	brain
17	chr7:150683400-150685400	Enhancers	Fetal Brain Female	brain
18	chr7:150683600-150684600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:150683600-150685200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:150683600-150685400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr7:150683600-150685400	Weak transcription	Right Atrium	heart
22	chr7:150683800-150685200	Weak transcription	HUVEC	blood vessel
23	chr7:150683800-150685400	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:150683800-150685400	Weak transcription	Fetal Intestine Large	intestine
25	chr7:150683800-150685400	Weak transcription	Left Ventricle	heart
26	chr7:150683800-150685400	Weak transcription	Right Ventricle	heart
27	chr7:150684000-150684800	Weak transcription	Spleen	Spleen
28	chr7:150684000-150685200	Weak transcription	K562	blood
29	chr7:150684000-150685400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:150684000-150685400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:150684200-150684600	Weak transcription	Primary T cells from cord blood	blood
32	chr7:150684200-150684600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr7:150684200-150685200	Weak transcription	Fetal Heart	heart
34	chr7:150684400-150685200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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