Variant report

Variant	rs325440
Chromosome Location	chr7:127447499-127447500
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127444898..127447731-chr7:127459720..127461359,2	K562	blood:
2	chr7:127445981..127447616-chr7:127451631..127453502,2	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10215276	0.89[ASN][1000 genomes]
rs10251423	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10251548	0.97[EUR][1000 genomes]
rs10255861	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10260037	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1029927	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1075206	0.81[ASN][1000 genomes]
rs10954163	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11521053	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971935	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11972774	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11976841	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11976946	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11977012	0.85[ASN][1000 genomes]
rs11977915	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11980318	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12531440	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533846	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539728	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540865	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706818	0.85[AFR][1000 genomes]
rs12706819	0.85[AFR][1000 genomes]
rs12706820	0.85[AFR][1000 genomes]
rs13231367	0.82[AFR][1000 genomes]
rs13236900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237048	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246200	0.84[YRI][hapmap]
rs1362268	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1362897	1.00[JPT][hapmap]
rs141450	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419969	0.83[ASN][1000 genomes]
rs16885524	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17151241	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151270	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151466	0.94[YRI][hapmap];0.85[AFR][1000 genomes]
rs17676986	1.00[JPT][hapmap]
rs17716738	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17718395	0.96[ASN][1000 genomes]
rs1860934	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1881084	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2014583	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2016786	0.95[EUR][1000 genomes]
rs2043982	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2119452	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2119453	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2141259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2402866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2402867	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2402870	0.95[EUR][1000 genomes]
rs325442	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325444	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325445	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325446	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325447	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325451	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs327518	0.85[CHB][hapmap]
rs35121681	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35176520	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35940771	0.95[EUR][1000 genomes]
rs35971861	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779529	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3779530	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808073	1.00[JPT][hapmap]
rs3808087	0.83[ASN][1000 genomes]
rs3808092	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808093	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808095	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808097	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808105	0.85[ASN][1000 genomes]
rs3808106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808107	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808112	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3824000	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4728077	0.85[ASN][1000 genomes]
rs4731376	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4731378	0.95[EUR][1000 genomes]
rs55694225	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56306023	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58583807	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467145	0.95[EUR][1000 genomes]
rs67827668	0.85[AFR][1000 genomes]
rs6948493	1.00[JPT][hapmap]
rs6961381	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963455	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963614	1.00[JPT][hapmap]
rs6968199	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969880	0.99[EUR][1000 genomes]
rs712712	0.88[EUR][1000 genomes]
rs712716	1.00[CEU][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes]
rs73234861	0.85[ASN][1000 genomes]
rs73234862	0.85[ASN][1000 genomes]
rs73234880	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73234882	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73234897	0.96[ASN][1000 genomes]
rs73234901	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs741599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs759843	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7785050	0.99[EUR][1000 genomes]
rs7786041	0.89[ASN][1000 genomes]
rs7797663	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7799882	0.95[EUR][1000 genomes]
rs7810024	0.85[AFR][1000 genomes]
rs887745	1.00[JPT][hapmap]
rs917831	1.00[JPT][hapmap]
rs917832	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs918793	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972088	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs972089	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs972090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[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	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
6	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

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	chr7:127423000-127449200	Weak transcription	Small Intestine	intestine
6	chr7:127423200-127447600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:127423400-127449000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:127427600-127447600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:127427600-127447600	Weak transcription	Thymus	Thymus
10	chr7:127429800-127447600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:127429800-127448200	Weak transcription	A549	lung
12	chr7:127431000-127447600	Weak transcription	Fetal Thymus	thymus
13	chr7:127431000-127449000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr7:127431400-127447600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:127431600-127449400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:127432000-127447600	Weak transcription	NHLF	lung
17	chr7:127432000-127448800	Weak transcription	NHDF-Ad	bronchial
18	chr7:127432400-127447600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:127432600-127447600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:127435000-127447600	Weak transcription	Primary B cells from cord blood	blood
21	chr7:127435000-127448800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:127435000-127459800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr7:127437200-127455400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:127437400-127447600	Weak transcription	Placenta	Placenta
25	chr7:127437400-127447800	Weak transcription	Lung	lung
26	chr7:127437800-127447800	Weak transcription	Spleen	Spleen
27	chr7:127438400-127447600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr7:127438400-127448000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:127438400-127449000	Weak transcription	Right Ventricle	heart
30	chr7:127438600-127447600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr7:127438600-127447800	Weak transcription	Ovary	ovary
32	chr7:127438600-127448800	Weak transcription	HMEC	breast
33	chr7:127438600-127449000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:127438800-127447600	Weak transcription	Adipose Nuclei	Adipose
35	chr7:127439000-127447600	Weak transcription	Fetal Muscle Leg	muscle
36	chr7:127439200-127447800	Weak transcription	Gastric	stomach
37	chr7:127439400-127447600	Weak transcription	Left Ventricle	heart
38	chr7:127439400-127447600	Weak transcription	HSMM	muscle
39	chr7:127439400-127447800	Weak transcription	Fetal Stomach	stomach
40	chr7:127439400-127447800	Weak transcription	Right Atrium	heart
41	chr7:127439400-127449000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr7:127439400-127455400	Weak transcription	Pancreas	Pancrea
43	chr7:127439600-127447600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr7:127440000-127447800	Weak transcription	Liver	Liver
45	chr7:127440200-127447800	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:127440200-127448800	Weak transcription	HSMMtube	muscle
47	chr7:127440200-127452600	Weak transcription	Psoas Muscle	Psoas
48	chr7:127440200-127460800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:127440400-127447600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr7:127440400-127447600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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