Variant report

Variant	rs72616183
Chromosome Location	chr4:15834288-15834289
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1004124	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1112243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1112244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11574928	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11937594	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12502292	0.85[EUR][1000 genomes]
rs16892418	0.95[ASN][1000 genomes]
rs16892438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892453	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17848900	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800051	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1989182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2286552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756240	0.93[ASN][1000 genomes]
rs3756243	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3796865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796871	0.95[ASN][1000 genomes]
rs3822256	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3822257	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4508877	0.93[ASN][1000 genomes]
rs56847340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57522122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58716318	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58955205	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59460689	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59907454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60276707	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61638287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6836374	0.93[ASN][1000 genomes]
rs72616175	0.93[ASN][1000 genomes]
rs72616176	0.93[ASN][1000 genomes]
rs72616177	0.93[ASN][1000 genomes]
rs72616178	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72616179	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72616180	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616181	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616192	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616193	0.80[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7690685	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs953870	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1013204	chr4:15762970-15836237	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1010597	chr4:15776181-15836237	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv916742	chr4:15797994-16064232	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr4:15811400-15851200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:15811400-15852200	Weak transcription	Spleen	Spleen
3	chr4:15811800-15842200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:15812200-15840000	Strong transcription	Dnd41	blood
5	chr4:15813800-15834600	Weak transcription	Psoas Muscle	Psoas
6	chr4:15819200-15853400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr4:15820600-15842200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr4:15820600-15844400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr4:15821200-15841600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr4:15827600-15841600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr4:15827600-15841800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:15827600-15853400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:15830000-15843200	Strong transcription	Primary B cells from cord blood	blood
14	chr4:15832600-15835200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr4:15833200-15843200	Strong transcription	Fetal Thymus	thymus
16	chr4:15833600-15836600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:15833800-15834600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:15834000-15834400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:15834000-15834400	ZNF genes & repeats	Aorta	Aorta
20	chr4:15834000-15834400	Enhancers	NHEK	skin
21	chr4:15834000-15834600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:15834000-15834800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr4:15834000-15834800	Enhancers	Primary B cells from peripheral blood	blood
24	chr4:15834000-15834800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr4:15834000-15835000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr4:15834000-15835000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:15834000-15835800	Enhancers	Esophagus	oesophagus
28	chr4:15834000-15842200	Strong transcription	Thymus	Thymus
29	chr4:15834200-15834600	Enhancers	HMEC	breast
30	chr4:15834200-15834800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr4:15834200-15834800	Enhancers	Left Ventricle	heart
32	chr4:15834200-15836000	Enhancers	Right Atrium	heart
33	chr4:15834200-15836400	Strong transcription	Primary T cells from cord blood	blood
34	chr4:15834200-15843200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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