Variant report

Variant	rs62481100
Chromosome Location	chr7:128042144-128042145
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	chr7:128041710-128042284	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128040454..128042949-chr7:128095892..128097636,2	MCF-7	breast:

Variant related genes	Relation type
IMPDH1	TF binding region
ENSG00000135245	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000240758	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1048531	0.87[AMR][1000 genomes]
rs10954185	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11763326	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11764599	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11766548	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11766743	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11769087	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11769168	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11769333	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11771063	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11771514	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12532613	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12540060	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12540762	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1864232	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2288550	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288554	0.87[AMR][1000 genomes]
rs35501542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3793164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55706726	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57124454	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57715170	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58727049	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62481099	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481103	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481115	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62481116	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62481123	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62481124	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs66511422	0.86[AFR][1000 genomes];0.87[ASN][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	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128002400-128044400	Weak transcription	Right Atrium	heart
2	chr7:128027800-128042800	Weak transcription	Fetal Brain Male	brain
3	chr7:128028000-128045200	Weak transcription	Small Intestine	intestine
4	chr7:128028400-128044600	Weak transcription	Fetal Heart	heart
5	chr7:128029600-128044400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:128030000-128043800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:128031000-128043800	Strong transcription	Fetal Stomach	stomach
8	chr7:128031200-128043200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:128031200-128043200	Strong transcription	A549	lung
10	chr7:128031200-128043600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:128031200-128043600	Strong transcription	Lung	lung
12	chr7:128031200-128044200	Strong transcription	Spleen	Spleen
13	chr7:128031400-128043200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:128031400-128043200	Strong transcription	Gastric	stomach
15	chr7:128031400-128043600	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr7:128031400-128044000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:128031400-128044200	Strong transcription	Fetal Muscle Leg	muscle
18	chr7:128031600-128042200	Strong transcription	Fetal Brain Female	brain
19	chr7:128031600-128043200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:128031600-128043800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:128031600-128043800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:128031600-128043800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:128031600-128043800	Strong transcription	Adipose Nuclei	Adipose
24	chr7:128031600-128044400	Strong transcription	Fetal Intestine Small	intestine
25	chr7:128031800-128042400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr7:128031800-128043000	Strong transcription	NHLF	lung
27	chr7:128031800-128043400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:128031800-128043400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:128031800-128043600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr7:128031800-128043600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr7:128031800-128043800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:128032000-128044000	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:128032200-128043400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:128032400-128043200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:128032400-128043600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:128032800-128043000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr7:128033000-128044000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:128033200-128042800	Strong transcription	NHEK	skin
39	chr7:128033200-128043200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:128033800-128043400	Strong transcription	Brain Anterior Caudate	brain
41	chr7:128034400-128043000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:128034400-128043600	Strong transcription	K562	blood
43	chr7:128034600-128043200	Strong transcription	Osteobl	bone
44	chr7:128034800-128044200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:128035600-128043000	Strong transcription	NHDF-Ad	bronchial
46	chr7:128036200-128043800	Strong transcription	Primary hematopoietic stem cells	blood
47	chr7:128038200-128044200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:128038400-128045200	Weak transcription	Fetal Kidney	kidney
49	chr7:128038600-128044000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:128038800-128043800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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