Variant report

Variant	rs4646458
Chromosome Location	chr7:99245013-99245014
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99244610..99247241-chr7:99273482..99275879,2	K562	blood:
2	chr7:99239459..99241379-chr7:99243980..99245773,2	K562	blood:

Variant related genes	Relation type
ENSG00000106258	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10211	0.85[CHB][hapmap];0.80[CHD][hapmap];0.81[GIH][hapmap]
rs10225314	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap]
rs10227637	0.82[ASN][1000 genomes]
rs10242455	0.90[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs10258552	0.84[ASN][1000 genomes]
rs10282706	0.85[CHB][hapmap];0.97[GIH][hapmap]
rs12334072	0.84[ASN][1000 genomes]
rs12334077	0.86[ASN][1000 genomes]
rs12360	0.85[CHB][hapmap]
rs1357319	0.85[CHB][hapmap];0.80[CHD][hapmap]
rs1419745	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs15524	0.90[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs17161774	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17161780	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17161783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1851427	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1859690	0.90[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs1879859	0.85[CHB][hapmap];0.80[CHD][hapmap];0.81[GIH][hapmap]
rs2037498	0.85[CHB][hapmap]
rs2037499	0.85[CHB][hapmap]
rs2222411	0.85[CHB][hapmap];0.80[CHD][hapmap]
rs2257401	0.85[CHB][hapmap]
rs2404770	0.85[CHB][hapmap]
rs2687075	0.85[CHB][hapmap]
rs2687076	0.85[CHB][hapmap];0.80[CHD][hapmap]
rs2687079	0.85[CHB][hapmap];0.80[CHD][hapmap];0.81[GIH][hapmap]
rs2687081	0.88[CHB][hapmap];0.83[CHD][hapmap]
rs2687086	0.85[CHB][hapmap]
rs2687087	0.85[CHB][hapmap];0.80[CHD][hapmap];0.81[GIH][hapmap]
rs2687133	0.85[CHB][hapmap]
rs2687134	0.85[CHB][hapmap]
rs2687136	0.85[CHB][hapmap];0.80[CHD][hapmap]
rs2687139	0.85[CHB][hapmap]
rs2687140	0.80[CHB][hapmap]
rs2687142	0.90[CHB][hapmap]
rs2687144	0.85[CHB][hapmap]
rs2687145	0.85[CHB][hapmap];0.80[CHD][hapmap]
rs2740561	0.84[CHB][hapmap]
rs2740565	0.85[CHB][hapmap];0.80[CHD][hapmap];0.81[GIH][hapmap]
rs3735453	0.90[CHB][hapmap];0.97[GIH][hapmap]
rs3800960	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs3823812	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs45442295	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs45600842	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4646446	0.95[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4646447	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4646449	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4646450	0.85[CHB][hapmap]
rs4646453	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4646456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646457	0.90[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs4646462	0.84[ASN][1000 genomes]
rs58024720	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59172435	0.84[ASN][1000 genomes]
rs60298785	0.84[ASN][1000 genomes]
rs60865030	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61337492	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61593387	0.84[ASN][1000 genomes]
rs6465750	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs72494453	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72494454	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72494456	0.84[ASN][1000 genomes]
rs776741	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs776746	0.90[CHB][hapmap];0.80[CHD][hapmap];0.97[GIH][hapmap];0.83[ASN][1000 genomes]
rs7780328	0.81[ASN][1000 genomes]
rs7798931	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7808022	0.90[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs939955	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482532	chr7:99205906-99363886	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99228400-99258000	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:99228400-99258800	Weak transcription	Ovary	ovary
3	chr7:99228800-99249000	Weak transcription	Small Intestine	intestine
4	chr7:99229200-99267400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:99229200-99275000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:99229400-99257400	Weak transcription	Fetal Lung	lung
7	chr7:99229400-99257800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:99229800-99255400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr7:99229800-99257200	Weak transcription	Esophagus	oesophagus
10	chr7:99229800-99257600	Weak transcription	Pancreas	Pancrea
11	chr7:99229800-99260200	Weak transcription	Left Ventricle	heart
12	chr7:99229800-99272600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr7:99230200-99257200	Weak transcription	Gastric	stomach
14	chr7:99230400-99249000	Weak transcription	Colonic Mucosa	Colon
15	chr7:99230400-99257600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:99230400-99272000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr7:99230800-99258000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:99231400-99248800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:99231600-99252400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr7:99231800-99246600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:99231800-99247400	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:99231800-99247800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:99231800-99250000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:99231800-99258000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:99231800-99258000	Weak transcription	Brain Substantia Nigra	brain
26	chr7:99231800-99260200	Weak transcription	K562	blood
27	chr7:99231800-99264600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:99231800-99268000	Weak transcription	Brain Anterior Caudate	brain
29	chr7:99231800-99268600	Weak transcription	HepG2	liver
30	chr7:99232000-99245400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:99232000-99246400	Weak transcription	Fetal Intestine Large	intestine
32	chr7:99232000-99258600	Weak transcription	Primary B cells from cord blood	blood
33	chr7:99232000-99275000	Weak transcription	A549	lung
34	chr7:99232200-99247000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr7:99232200-99250600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:99233000-99266000	Weak transcription	NHEK	skin
37	chr7:99235800-99276400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:99236400-99247600	Weak transcription	Fetal Stomach	stomach
39	chr7:99236600-99246600	Weak transcription	Spleen	Spleen
40	chr7:99236600-99247200	Weak transcription	Fetal Thymus	thymus
41	chr7:99236600-99251000	Weak transcription	Lung	lung
42	chr7:99236800-99258400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:99236800-99260400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:99236800-99263000	Weak transcription	Placenta	Placenta
45	chr7:99237000-99272200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr7:99237200-99249200	Weak transcription	Fetal Intestine Small	intestine
47	chr7:99237200-99258000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:99237200-99258800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr7:99237200-99264800	Weak transcription	Right Ventricle	heart
50	chr7:99237400-99245400	Weak transcription	Rectal Mucosa Donor 29	rectum

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