Variant report

Variant	rs34387062
Chromosome Location	chr7:105024117-105024118
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	chr7:105012234..105014245-chr7:105022510..105026066,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10227302	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10230128	0.80[ASN][1000 genomes]
rs10241415	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10277120	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10281422	0.82[EUR][1000 genomes]
rs10281886	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10953470	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10953474	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1121194	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11761429	0.84[ASN][1000 genomes]
rs11765899	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1204056	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1204058	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1204060	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1204066	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1204077	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1204078	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1204080	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12334245	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12668097	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12671047	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12705304	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12705306	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12705308	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13226540	0.93[EUR][1000 genomes]
rs13238191	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13239067	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2030776	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2040914	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2057883	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2057884	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2237613	0.82[EUR][1000 genomes]
rs2240463	0.82[EUR][1000 genomes]
rs2299308	0.81[ASN][1000 genomes]
rs2299319	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35601145	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35757884	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35851667	0.85[ASN][1000 genomes]
rs3779210	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3801278	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3801281	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801282	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801285	0.81[EUR][1000 genomes]
rs3801999	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41562	0.82[EUR][1000 genomes]
rs41563	0.82[EUR][1000 genomes]
rs4496901	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4727621	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4730072	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4730080	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4730081	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4730082	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62484712	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6466053	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6466055	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6466056	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6466057	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6466064	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66599006	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6943183	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6952386	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6962856	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7357199	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7789569	0.91[ASN][1000 genomes]
rs7800928	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7801804	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7806591	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7811681	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs917114	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9640686	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9649275	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv1029832	chr7:104905057-105112489	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv1034689	chr7:104950564-105085879	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv1022065	chr7:104997315-105190662	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv888929	chr7:105012975-105163091	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
16	nsv888930	chr7:105012975-105170476	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	nsv888931	chr7:105012975-105173974	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
18	nsv888932	chr7:105012975-105179756	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
19	nsv888933	chr7:105012975-105193051	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	nsv888934	chr7:105016900-105056010	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	esv3436858	chr7:105017550-105044209	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv1018975	chr7:105018374-105153618	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
23	nsv539050	chr7:105018374-105153618	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
24	nsv1023564	chr7:105018484-105182998	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104995200-105028200	Weak transcription	Esophagus	oesophagus
2	chr7:104995400-105028000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:104995600-105027200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:104995800-105027200	Weak transcription	Primary T cells from cord blood	blood
5	chr7:104997400-105026800	Weak transcription	Primary B cells from cord blood	blood
6	chr7:105000000-105028200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:105000200-105025800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:105003200-105027600	Weak transcription	Fetal Intestine Small	intestine
9	chr7:105003600-105025200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:105006200-105027600	Weak transcription	Hela-S3	cervix
11	chr7:105006400-105027400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:105008200-105028200	Weak transcription	Pancreas	Pancrea
13	chr7:105009200-105027200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:105009200-105028000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:105009200-105028000	Weak transcription	Psoas Muscle	Psoas
16	chr7:105010000-105027400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr7:105016200-105025800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:105016200-105026200	Weak transcription	Dnd41	blood
19	chr7:105016400-105027000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr7:105016400-105027200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr7:105017600-105027200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:105017800-105027200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr7:105017800-105027400	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:105017800-105027400	Weak transcription	A549	lung
25	chr7:105018000-105028000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr7:105018200-105025800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:105018200-105028000	Weak transcription	Left Ventricle	heart
28	chr7:105018400-105027000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:105018400-105027400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:105018400-105027400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:105018600-105026000	Weak transcription	Spleen	Spleen
32	chr7:105018600-105026400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr7:105018600-105027200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:105018600-105027200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr7:105018600-105027400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:105018600-105027400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:105018600-105027800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:105018600-105028000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr7:105018800-105026000	Weak transcription	K562	blood
40	chr7:105018800-105027200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:105018800-105027200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:105018800-105027800	Weak transcription	Stomach Mucosa	stomach
43	chr7:105020400-105027200	Weak transcription	NHEK	skin
44	chr7:105020400-105027400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:105020800-105028000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:105022000-105025200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr7:105022000-105025800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:105022000-105025800	Weak transcription	Fetal Stomach	stomach
49	chr7:105022400-105025800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:105022400-105027200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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