Variant report

Variant	rs325438
Chromosome Location	chr7:127442833-127442834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127433199..127438037-chr7:127438962..127443082,8	K562	blood:
2	chr7:127439908..127441852-chr7:127442078..127445493,4	K562	blood:
3	chr7:127433838..127436136-chr7:127441582..127444272,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1019578	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10228031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229187	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1025075	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487503	1.00[EUR][1000 genomes]
rs1073155	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12536253	1.00[JPT][hapmap]
rs1440973	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468701	0.85[ASN][1000 genomes]
rs1468702	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17133046	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151515	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17151567	0.84[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17151575	1.00[EUR][1000 genomes]
rs17151629	1.00[EUR][1000 genomes]
rs17151639	1.00[JPT][hapmap]
rs17151650	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs1833146	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1966517	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2402873	1.00[JPT][hapmap]
rs2582716	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs325439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325443	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325448	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325449	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325450	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327509	1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes]
rs327514	1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs327515	1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs327517	1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes]
rs3757772	1.00[JPT][hapmap]
rs4728078	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4728082	1.00[EUR][1000 genomes]
rs4731379	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731382	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731383	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731390	1.00[EUR][1000 genomes]
rs4731391	1.00[EUR][1000 genomes]
rs537972	0.88[AMR][1000 genomes]
rs61743021	1.00[EUR][1000 genomes]
rs6467142	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467146	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467147	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467150	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467151	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467154	0.84[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6946590	1.00[EUR][1000 genomes]
rs6950211	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952123	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6952734	1.00[EUR][1000 genomes]
rs6953530	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6964714	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6972398	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6975274	1.00[EUR][1000 genomes]
rs6976145	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6979918	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs698407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs698409	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712706	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712708	0.84[ASW][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.91[MKK][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs712709	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712710	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712711	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712713	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712714	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712717	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712720	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73721253	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73721258	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73721261	1.00[EUR][1000 genomes]
rs73721264	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7458839	0.89[ASN][1000 genomes]
rs7791000	0.84[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7794303	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7794328	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7809182	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs806126	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806161	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs806163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806164	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806165	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806167	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.92[YRI][hapmap];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806170	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs806171	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.88[AMR][1000 genomes]
rs806173	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes]
rs806182	0.81[AMR][1000 genomes]
rs809333	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
2	chr7:127401000-127447600	Weak transcription	Fetal Intestine Large	intestine
3	chr7:127401000-127447800	Weak transcription	Fetal Intestine Small	intestine
4	chr7:127407400-127447600	Weak transcription	Dnd41	blood
5	chr7:127422400-127445400	Weak transcription	Aorta	Aorta
6	chr7:127423000-127449200	Weak transcription	Small Intestine	intestine
7	chr7:127423200-127447600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:127423400-127449000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:127423600-127447400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:127427600-127447600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:127427600-127447600	Weak transcription	Thymus	Thymus
12	chr7:127429800-127447600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:127429800-127448200	Weak transcription	A549	lung
14	chr7:127430800-127444400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:127431000-127447600	Weak transcription	Fetal Thymus	thymus
16	chr7:127431000-127449000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:127431400-127447600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:127431600-127449400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:127432000-127447600	Weak transcription	NHLF	lung
20	chr7:127432000-127448800	Weak transcription	NHDF-Ad	bronchial
21	chr7:127432400-127444400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:127432400-127446800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:127432400-127447600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:127432600-127447400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:127432600-127447600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:127434400-127447200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:127435000-127447400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr7:127435000-127447600	Weak transcription	Primary B cells from cord blood	blood
29	chr7:127435000-127448800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:127435000-127459800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr7:127435600-127447200	Weak transcription	Osteobl	bone
32	chr7:127437200-127455400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:127437400-127447600	Weak transcription	Placenta	Placenta
34	chr7:127437400-127447800	Weak transcription	Lung	lung
35	chr7:127437800-127447800	Weak transcription	Spleen	Spleen
36	chr7:127438400-127447600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:127438400-127448000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:127438400-127449000	Weak transcription	Right Ventricle	heart
39	chr7:127438600-127444800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr7:127438600-127447400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr7:127438600-127447400	Weak transcription	Brain Anterior Caudate	brain
42	chr7:127438600-127447400	Weak transcription	NHEK	skin
43	chr7:127438600-127447600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr7:127438600-127447800	Weak transcription	Ovary	ovary
45	chr7:127438600-127448800	Weak transcription	HMEC	breast
46	chr7:127438600-127449000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:127438800-127447600	Weak transcription	Adipose Nuclei	Adipose
48	chr7:127439000-127447400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:127439000-127447600	Weak transcription	Fetal Muscle Leg	muscle
50	chr7:127439200-127447800	Weak transcription	Gastric	stomach

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