Variant report

Variant	rs4695243
Chromosome Location	chr4:47534730-47534731
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	POLR2A	chr4:47533473-47534883	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:47533452..47535756-chr4:47565106..47567780,2	K562	blood:

Variant related genes	Relation type
ATP10D	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10004038	1.00[CHB][hapmap]
rs10021442	1.00[CHB][hapmap]
rs10027156	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11932436	1.00[CHB][hapmap]
rs11941639	1.00[CHB][hapmap]
rs11947712	1.00[CHB][hapmap]
rs1316783	1.00[CHB][hapmap]
rs13435606	1.00[CHB][hapmap]
rs16860404	1.00[CHB][hapmap]
rs17462783	1.00[CHB][hapmap]
rs17572227	1.00[CHB][hapmap]
rs17572234	1.00[CHB][hapmap]
rs17572617	1.00[CHB][hapmap]
rs28647985	1.00[ASN][1000 genomes]
rs4132384	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs4362797	0.86[ASN][1000 genomes]
rs4423850	1.00[ASN][1000 genomes]
rs4467534	1.00[ASN][1000 genomes]
rs4467535	1.00[ASN][1000 genomes]
rs4475121	1.00[ASN][1000 genomes]
rs4599383	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4694851	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs4695239	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6447564	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6835978	1.00[CHB][hapmap]
rs6837171	0.86[ASN][1000 genomes]
rs6837743	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6842769	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6849863	1.00[ASN][1000 genomes]
rs6857999	1.00[CHD][hapmap]
rs73237050	1.00[ASN][1000 genomes]
rs73237070	1.00[ASN][1000 genomes]
rs73237074	1.00[ASN][1000 genomes]
rs73237078	1.00[ASN][1000 genomes]
rs73237080	1.00[ASN][1000 genomes]
rs73237081	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237082	1.00[ASN][1000 genomes]
rs73237083	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237084	1.00[ASN][1000 genomes]
rs73237085	1.00[ASN][1000 genomes]
rs73237086	1.00[ASN][1000 genomes]
rs73237087	1.00[ASN][1000 genomes]
rs73237088	1.00[ASN][1000 genomes]
rs73237089	1.00[ASN][1000 genomes]
rs73237090	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237091	1.00[ASN][1000 genomes]
rs7662844	0.96[EUR][1000 genomes]
rs7674353	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7675970	0.95[EUR][1000 genomes]
rs9999398	0.89[ASW][hapmap];0.96[CEU][hapmap];0.97[GIH][hapmap];0.91[LWK][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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 miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1008515	chr4:47488431-47906835	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv948568	chr4:47488431-47907524	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1004939	chr4:47488573-47901460	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv537080	chr4:47488573-47901460	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv997471	chr4:47489412-47895223	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh 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 miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv998892	chr4:47493552-47863354	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv537081	chr4:47493552-47863354	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1000337	chr4:47493907-47902019	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv879006	chr4:47525054-47555196	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47488800-47559800	Weak transcription	Right Ventricle	heart
2	chr4:47512200-47536800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:47512400-47577200	Weak transcription	Small Intestine	intestine
4	chr4:47514000-47551000	Weak transcription	Gastric	stomach
5	chr4:47516400-47547800	Weak transcription	Ovary	ovary
6	chr4:47516400-47548200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:47518000-47544800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:47525200-47540600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:47525200-47544000	Weak transcription	Fetal Intestine Small	intestine
10	chr4:47526400-47559800	Weak transcription	Pancreas	Pancrea
11	chr4:47528000-47538400	Weak transcription	Adipose Nuclei	Adipose
12	chr4:47530200-47536400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:47530400-47536600	Enhancers	HMEC	breast
14	chr4:47531000-47536000	Weak transcription	Liver	Liver
15	chr4:47531600-47536200	Weak transcription	Fetal Kidney	kidney
16	chr4:47531600-47536800	Weak transcription	Fetal Lung	lung
17	chr4:47531600-47537000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:47531800-47537800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:47532000-47537200	Weak transcription	Fetal Intestine Large	intestine
20	chr4:47532200-47536000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:47532200-47536000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:47532200-47536400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:47532200-47536600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:47532200-47550400	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:47532600-47534800	Enhancers	NHLF	lung
26	chr4:47532600-47536600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr4:47532600-47536600	Enhancers	HUVEC	blood vessel
28	chr4:47532800-47535000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:47532800-47536200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:47532800-47536400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:47532800-47536600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:47532800-47536600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr4:47533000-47535000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr4:47533000-47535000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:47533000-47535400	Enhancers	Primary B cells from peripheral blood	blood
36	chr4:47533000-47535400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr4:47533000-47536200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr4:47533000-47536400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr4:47533200-47534800	Enhancers	Primary hematopoietic stem cells	blood
40	chr4:47533200-47535000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr4:47533200-47536000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr4:47533200-47536400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:47533400-47535000	Enhancers	Fetal Thymus	thymus
44	chr4:47533400-47548400	Weak transcription	Psoas Muscle	Psoas
45	chr4:47533800-47536200	Genic enhancers	HSMM	muscle
46	chr4:47533800-47548000	Weak transcription	Fetal Heart	heart
47	chr4:47534000-47534800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr4:47534000-47535200	Flanking Active TSS	Dnd41	blood
49	chr4:47534000-47536800	Weak transcription	NHDF-Ad	bronchial
50	chr4:47534000-47559800	Weak transcription	Lung	lung

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