Variant report

Variant	rs56740561
Chromosome Location	chr7:3968800-3968801
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:3958497..3961306-chr7:3966157..3968851,3	K562	blood:
2	chr7:3958497..3961306-chr7:3967336..3968851,2	K562	blood:
3	chr7:3963610..3965143-chr7:3967284..3969432,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10226220	1.00[AMR][1000 genomes]
rs10232161	1.00[AMR][1000 genomes]
rs10236208	1.00[AMR][1000 genomes]
rs10239119	1.00[AMR][1000 genomes]
rs10239349	1.00[AMR][1000 genomes]
rs10239755	1.00[AMR][1000 genomes]
rs10240764	1.00[AMR][1000 genomes]
rs10240770	1.00[AMR][1000 genomes]
rs10240776	1.00[AMR][1000 genomes]
rs10248032	1.00[AMR][1000 genomes]
rs10249140	1.00[AMR][1000 genomes]
rs10249486	1.00[AMR][1000 genomes]
rs10249617	1.00[AMR][1000 genomes]
rs10250969	1.00[AMR][1000 genomes]
rs10251860	1.00[AMR][1000 genomes]
rs10254942	1.00[AMR][1000 genomes]
rs10260973	1.00[AMR][1000 genomes]
rs10261101	1.00[AMR][1000 genomes]
rs10264034	1.00[AMR][1000 genomes]
rs10265265	1.00[AMR][1000 genomes]
rs10269172	1.00[AMR][1000 genomes]
rs10271525	1.00[AMR][1000 genomes]
rs10277140	1.00[AMR][1000 genomes]
rs10281035	1.00[AMR][1000 genomes]
rs16871049	1.00[AMR][1000 genomes]
rs28408018	1.00[AMR][1000 genomes]
rs28462157	1.00[AMR][1000 genomes]
rs28532947	1.00[AMR][1000 genomes]
rs28554772	1.00[AMR][1000 genomes]
rs28560779	1.00[AMR][1000 genomes]
rs28581916	1.00[AMR][1000 genomes]
rs28656426	1.00[AMR][1000 genomes]
rs28715920	1.00[AMR][1000 genomes]
rs34758548	1.00[AMR][1000 genomes]
rs57744825	1.00[AMR][1000 genomes]
rs57761987	1.00[AMR][1000 genomes]
rs57981062	1.00[AMR][1000 genomes]
rs58587403	1.00[AMR][1000 genomes]
rs59408720	1.00[AMR][1000 genomes]
rs60180277	1.00[AMR][1000 genomes]
rs60409549	1.00[AMR][1000 genomes]
rs9655341	1.00[AMR][1000 genomes]
rs9655342	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1029406	chr7:3860894-4477095	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538685	chr7:3860894-4477095	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026410	chr7:3869104-4383606	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025497	chr7:3905444-4176032	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv538686	chr7:3905444-4176032	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv433014	chr7:3910039-4054769	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv518377	chr7:3939055-3978342	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1030082	chr7:3941203-3986403	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1020222	chr7:3946655-3985756	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1027500	chr7:3949954-3986403	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1024445	chr7:3954131-3982653	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv464274	chr7:3955516-4613607	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv464275	chr7:3955516-4613607	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv464276	chr7:3955516-4613607	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv464277	chr7:3955516-4613607	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv464278	chr7:3955516-4613607	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv605939	chr7:3955516-4613607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1019086	chr7:3968656-4044519	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv538687	chr7:3968656-4044519	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3936800-3974200	Weak transcription	Aorta	Aorta
2	chr7:3962000-3972600	Weak transcription	Spleen	Spleen
3	chr7:3962000-3982400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:3963000-3969800	Enhancers	Fetal Muscle Leg	muscle
5	chr7:3964400-3970800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:3965000-3969400	Weak transcription	Fetal Brain Male	brain
7	chr7:3965400-3974200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:3966600-3974200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:3967200-3968800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:3967200-3969000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr7:3967400-3968800	Enhancers	HSMMtube	muscle
12	chr7:3967400-3969400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr7:3968200-3970000	Enhancers	Pancreas	Pancrea
14	chr7:3968400-3969400	Enhancers	Fetal Heart	heart
15	chr7:3968600-3969000	Enhancers	Right Atrium	heart
16	chr7:3968600-3969200	Enhancers	HepG2	liver
17	chr7:3968800-3969000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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