Variant report

Variant	rs9648103
Chromosome Location	chr7:7245268-7245269
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10225975	0.84[AMR][1000 genomes]
rs10272173	0.84[AMR][1000 genomes]
rs10277583	0.80[AMR][1000 genomes]
rs10447684	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13222351	0.83[AMR][1000 genomes]
rs13234717	0.83[AMR][1000 genomes]
rs13238772	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13246962	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17164011	0.85[EUR][1000 genomes]
rs17164166	0.82[YRI][hapmap]
rs17249770	0.90[EUR][1000 genomes]
rs17250084	0.91[EUR][1000 genomes]
rs17251749	0.84[AMR][1000 genomes]
rs17309555	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2116533	0.90[CEU][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes]
rs2116534	0.90[EUR][1000 genomes]
rs2116535	0.85[CEU][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes]
rs2163638	0.91[EUR][1000 genomes]
rs2163639	0.85[CEU][hapmap];0.80[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34386799	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34419200	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34491888	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34705126	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34971257	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4324853	0.82[CEU][hapmap];0.90[EUR][1000 genomes]
rs4428582	0.85[EUR][1000 genomes]
rs4582461	0.90[CEU][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58312319	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58843310	0.85[EUR][1000 genomes]
rs62449960	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62449964	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62449965	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62450007	0.82[AMR][1000 genomes]
rs62453491	0.90[EUR][1000 genomes]
rs62453504	0.85[EUR][1000 genomes]
rs62453505	0.85[EUR][1000 genomes]
rs62453506	0.85[EUR][1000 genomes]
rs62453507	0.91[EUR][1000 genomes]
rs62453510	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62453511	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62453512	0.83[EUR][1000 genomes]
rs62453513	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv464300	chr7:7040176-7368699	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv606033	chr7:7040176-7368699	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS 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	42 gene(s)	inside rSNPs	diseases
7	nsv1016369	chr7:7053923-7375567	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv1023788	chr7:7053923-7407783	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv538720	chr7:7053923-7407783	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv1032813	chr7:7053923-7497484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
11	nsv1030246	chr7:7053923-7569633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
12	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
13	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
14	nsv1032974	chr7:7145831-7393218	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
16	nsv508445	chr7:7190518-7261098	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
17	esv2758102	chr7:7209911-7493901	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
18	esv2759505	chr7:7209911-7493901	Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7223800-7279600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:7230200-7246600	Weak transcription	Osteobl	bone
3	chr7:7231400-7248400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:7240800-7246400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:7241200-7245600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:7241200-7254400	Weak transcription	Aorta	Aorta
7	chr7:7241400-7254400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:7241600-7245600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:7241600-7246000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr7:7241600-7248000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:7241600-7248200	Weak transcription	Spleen	Spleen
12	chr7:7241600-7250000	Weak transcription	Hela-S3	cervix
13	chr7:7241600-7250200	Weak transcription	Lung	lung
14	chr7:7241600-7257000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:7241600-7263000	Weak transcription	Right Atrium	heart
16	chr7:7241600-7273400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:7241800-7245600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr7:7241800-7245800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr7:7241800-7246000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr7:7241800-7246400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr7:7241800-7247000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:7241800-7248000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr7:7241800-7248800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:7241800-7251800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:7241800-7252200	Weak transcription	Small Intestine	intestine
26	chr7:7241800-7253800	Weak transcription	Placenta	Placenta
27	chr7:7241800-7254400	Weak transcription	Thymus	Thymus
28	chr7:7242000-7246600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:7242000-7247200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:7242000-7247200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:7242000-7247400	Weak transcription	HSMMtube	muscle
32	chr7:7242000-7248200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:7242000-7250000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:7242000-7251800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:7242000-7254400	Weak transcription	Esophagus	oesophagus
36	chr7:7242000-7254400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:7242000-7261200	Weak transcription	Stomach Mucosa	stomach
38	chr7:7242000-7261400	Weak transcription	Right Ventricle	heart
39	chr7:7242200-7246600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:7242200-7246600	Weak transcription	NHEK	skin
41	chr7:7242200-7250000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr7:7242200-7250000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:7242200-7260400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr7:7242400-7245600	Enhancers	Primary T cells from cord blood	blood
45	chr7:7243000-7252200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:7243600-7250200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr7:7243800-7246600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:7243800-7254200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr7:7244000-7245800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr7:7244000-7246600	Weak transcription	HepG2	liver

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