Variant report

Variant	rs4731448
Chromosome Location	chr7:128041339-128041340
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	chr7:128040447-128042135	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:
2	chr7:128038192..128041556-chr7:128094283..128098008,3	MCF-7	breast:

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

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10229016	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10229394	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10230965	1.00[JPT][hapmap]
rs10251597	1.00[JPT][hapmap]
rs1035971	0.86[TSI][hapmap]
rs1065267	0.89[CEU][hapmap]
rs11770116	0.88[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.98[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11980741	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12672625	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs13245629	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs1560214	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17537088	0.83[CEU][hapmap]
rs2288548	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[TSI][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2402892	0.82[TSI][hapmap]
rs2402895	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2562730	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs2562733	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs2562737	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2562740	1.00[JPT][hapmap]
rs2732394	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2732429	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3793165	0.85[AFR][1000 genomes]
rs4728108	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4731446	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4731450	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731453	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731454	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4731455	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6467178	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6948333	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs930106	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
7	nsv981576	chr7:128036949-128041507	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3443272	chr7:128039366-128041864	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 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	chr7:128031400-128041800	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr7:128031400-128043200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:128031400-128043200	Strong transcription	Gastric	stomach
16	chr7:128031400-128043600	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr7:128031400-128044000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:128031400-128044200	Strong transcription	Fetal Muscle Leg	muscle
19	chr7:128031600-128041400	Strong transcription	Stomach Smooth Muscle	stomach
20	chr7:128031600-128041600	Strong transcription	Brain Germinal Matrix	brain
21	chr7:128031600-128041800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:128031600-128042000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr7:128031600-128042000	Strong transcription	Right Ventricle	heart
24	chr7:128031600-128042200	Strong transcription	Fetal Brain Female	brain
25	chr7:128031600-128043200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:128031600-128043800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:128031600-128043800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:128031600-128043800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:128031600-128043800	Strong transcription	Adipose Nuclei	Adipose
30	chr7:128031600-128044400	Strong transcription	Fetal Intestine Small	intestine
31	chr7:128031800-128041600	Strong transcription	Ovary	ovary
32	chr7:128031800-128041800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr7:128031800-128041800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:128031800-128041800	Strong transcription	Placenta	Placenta
35	chr7:128031800-128042400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:128031800-128043000	Strong transcription	NHLF	lung
37	chr7:128031800-128043400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:128031800-128043400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:128031800-128043600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr7:128031800-128043600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr7:128031800-128043800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:128032000-128044000	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:128032200-128043400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:128032400-128042000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:128032400-128043200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:128032400-128043600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr7:128032600-128042000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:128032800-128043000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr7:128033000-128041800	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr7:128033000-128044000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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