Variant report

Variant	rs72915943
Chromosome Location	chr4:122715946-122715947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:122713231..122718740-chr4:122718856..122724586,12	K562	blood:
2	chr4:122707344..122709734-chr4:122714569..122716206,2	MCF-7	breast:
3	chr4:122711885..122714299-chr4:122714317..122717336,4	K562	blood:

Variant related genes	Relation type
ENSG00000123737	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11930245	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11930756	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11933339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11934168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11942369	1.00[EUR][1000 genomes]
rs1507987	0.83[AMR][1000 genomes]
rs1507988	0.83[AMR][1000 genomes]
rs17005269	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17005276	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2661556	0.83[AMR][1000 genomes]
rs2706797	0.83[AMR][1000 genomes]
rs3217770	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34669312	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3811743	0.83[AMR][1000 genomes]
rs4001033	0.83[AMR][1000 genomes]
rs4132552	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61639241	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6845842	1.00[EUR][1000 genomes]
rs72915930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915957	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915958	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917987	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917996	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72918000	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919903	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919909	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs769235	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs769240	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122711800-122721800	Weak transcription	Fetal Stomach	stomach
2	chr4:122711800-122721800	Weak transcription	HMEC	breast
3	chr4:122712200-122720800	Weak transcription	Fetal Intestine Large	intestine
4	chr4:122712200-122721600	Weak transcription	A549	lung
5	chr4:122712400-122717000	Weak transcription	HUVEC	blood vessel
6	chr4:122712800-122716000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:122713000-122717000	Weak transcription	NHLF	lung
8	chr4:122713200-122716800	Weak transcription	NHDF-Ad	bronchial
9	chr4:122713200-122721000	Weak transcription	HSMMtube	muscle
10	chr4:122714600-122716800	Weak transcription	NHEK	skin
11	chr4:122714600-122717200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:122714600-122721800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:122715000-122716000	Enhancers	Dnd41	blood
14	chr4:122715200-122716200	Enhancers	Fetal Heart	heart
15	chr4:122715400-122716000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:122715400-122716200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:122715400-122716200	Enhancers	Osteobl	bone
18	chr4:122715400-122716400	Flanking Active TSS	HepG2	liver
19	chr4:122715600-122716200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:122715600-122716200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:122715600-122716400	Flanking Active TSS	K562	blood
22	chr4:122715600-122717600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:122715600-122717600	Enhancers	Thymus	Thymus
24	chr4:122715600-122717600	Enhancers	HSMM	muscle
25	chr4:122715600-122717800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:122715600-122717800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr4:122715600-122718200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr4:122715600-122721800	Enhancers	Fetal Thymus	thymus
29	chr4:122715800-122716600	Enhancers	GM12878-XiMat	blood
30	chr4:122715800-122716800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr4:122715800-122717000	Enhancers	H9 Cell Line	embryonic stem cell
32	chr4:122715800-122717200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr4:122715800-122717600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:122715800-122717800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:122715800-122718200	Enhancers	HUES64 Cell Line	embryonic stem cell

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