Variant report

Variant	rs5012441
Chromosome Location	chr7:33314496-33314497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:33306418..33309708-chr7:33313851..33316308,3	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1008582	0.86[ASN][1000 genomes]
rs1019300	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10228013	0.86[ASN][1000 genomes]
rs10228439	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10233296	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10250045	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10268074	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10270013	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10278145	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10279081	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1030029	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10951382	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10951383	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12155105	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12537278	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12671191	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1345307	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1345308	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1362371	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1419898	0.84[ASN][1000 genomes]
rs1420147	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1420155	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1420158	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1592465	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1592466	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1592467	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1819826	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1833177	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1894873	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1969575	0.84[EUR][1000 genomes]
rs2024430	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2392230	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2392231	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4720109	0.83[EUR][1000 genomes]
rs4720115	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4723261	0.85[EUR][1000 genomes]
rs6462463	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6462464	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6462467	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6944623	0.80[EUR][1000 genomes]
rs6950434	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6976311	0.87[ASN][1000 genomes]
rs6976753	0.87[ASN][1000 genomes]
rs721533	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs764041	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7778657	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7778892	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7780194	0.82[EUR][1000 genomes]
rs7789344	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7791710	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7803065	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7809540	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs964707	0.90[EUR][1000 genomes]
rs986553	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830943	chr7:33167106-33352759	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv606610	chr7:33218763-33486316	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1016416	chr7:33241443-33559477	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv916660	chr7:33272493-33506384	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1792546	chr7:33304218-33346932	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv887925	chr7:33304218-33361323	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 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	chr7:33283800-33316000	Weak transcription	Ovary	ovary
2	chr7:33288800-33317600	Weak transcription	Gastric	stomach
3	chr7:33290000-33316200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr7:33290800-33316400	Weak transcription	Aorta	Aorta
5	chr7:33291200-33316000	Weak transcription	Primary T cells from cord blood	blood
6	chr7:33302200-33317400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:33305800-33317400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr7:33306200-33316200	Weak transcription	Pancreas	Pancrea
9	chr7:33307600-33315000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:33308200-33316000	Weak transcription	Left Ventricle	heart
11	chr7:33308200-33316200	Weak transcription	Lung	lung
12	chr7:33308600-33316400	Weak transcription	Spleen	Spleen
13	chr7:33309400-33316200	Weak transcription	Fetal Stomach	stomach
14	chr7:33311000-33316400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:33311200-33317400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr7:33311200-33317600	Weak transcription	Psoas Muscle	Psoas
17	chr7:33311200-33325200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:33311800-33316800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:33311800-33317000	Weak transcription	Fetal Intestine Large	intestine
20	chr7:33312000-33316200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:33312000-33317800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:33312400-33316000	Weak transcription	Adipose Nuclei	Adipose
23	chr7:33312400-33316800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:33313200-33316200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:33313200-33328200	Weak transcription	Fetal Kidney	kidney
26	chr7:33313600-33316200	Weak transcription	Liver	Liver
27	chr7:33313600-33316200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:33313800-33316600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:33313800-33317200	Weak transcription	Primary B cells from cord blood	blood
30	chr7:33313800-33317200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr7:33314200-33315000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:33314400-33316200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr7:33314400-33317000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr7:33314400-33318000	Weak transcription	Right Ventricle	heart

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