Variant report

Variant	rs10253709
Chromosome Location	chr7:7250276-7250277
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	chr7:7248718..7250730-chr7:7255889..7258319,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1008896	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10215143	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10240750	0.80[YRI][hapmap]
rs10242378	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10244392	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10252611	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10253466	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10260052	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10260457	0.98[ASN][1000 genomes]
rs10273490	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10275169	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10280795	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10282249	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11760845	0.91[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs11773799	0.91[ASN][1000 genomes]
rs11978780	0.80[YRI][hapmap]
rs11981957	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12055926	0.81[CHB][hapmap]
rs13226799	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs13228554	0.89[ASN][1000 genomes]
rs13234672	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13242769	0.81[ASN][1000 genomes]
rs13245879	0.92[CHB][hapmap];0.81[ASN][1000 genomes]
rs17164679	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17165258	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17165285	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28803004	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28883357	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34137418	0.81[ASN][1000 genomes]
rs34466774	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34534187	0.82[ASN][1000 genomes]
rs35084224	0.82[ASN][1000 genomes]
rs35234968	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35660747	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56278796	0.89[ASN][1000 genomes]
rs61048998	0.87[ASN][1000 genomes]
rs6942455	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6945013	0.91[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs6951671	0.98[ASN][1000 genomes]
rs6977673	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71533354	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71533355	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71533359	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71533362	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71533363	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71533364	0.82[ASN][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:98 , 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	chr7:7241200-7254400	Weak transcription	Aorta	Aorta
3	chr7:7241400-7254400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:7241600-7257000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:7241600-7263000	Weak transcription	Right Atrium	heart
6	chr7:7241600-7273400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:7241800-7251800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:7241800-7252200	Weak transcription	Small Intestine	intestine
9	chr7:7241800-7253800	Weak transcription	Placenta	Placenta
10	chr7:7241800-7254400	Weak transcription	Thymus	Thymus
11	chr7:7242000-7251800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:7242000-7254400	Weak transcription	Esophagus	oesophagus
13	chr7:7242000-7254400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:7242000-7261200	Weak transcription	Stomach Mucosa	stomach
15	chr7:7242000-7261400	Weak transcription	Right Ventricle	heart
16	chr7:7242200-7260400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:7243000-7252200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:7243800-7254200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr7:7244000-7254400	Weak transcription	Liver	Liver
20	chr7:7244200-7256400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:7244600-7252000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:7244600-7254200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr7:7244800-7252600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:7245000-7254200	Weak transcription	Dnd41	blood
25	chr7:7245600-7252200	Weak transcription	Primary T cells from cord blood	blood
26	chr7:7246200-7255800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr7:7246600-7260400	Weak transcription	NHDF-Ad	bronchial
28	chr7:7247200-7253000	Weak transcription	Osteobl	bone
29	chr7:7247600-7250800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:7247600-7251000	Strong transcription	HepG2	liver
31	chr7:7247600-7252200	Weak transcription	Fetal Intestine Large	intestine
32	chr7:7247600-7275000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr7:7247800-7251800	Weak transcription	HSMMtube	muscle
34	chr7:7247800-7254400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:7247800-7255600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr7:7247800-7267400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:7248000-7251400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:7248000-7254400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr7:7248400-7251800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:7248400-7251800	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr7:7248400-7251800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:7248400-7251800	Strong transcription	HSMM	muscle
43	chr7:7248400-7254200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:7248400-7254200	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:7248600-7251800	Weak transcription	Left Ventricle	heart
46	chr7:7248600-7254200	Weak transcription	GM12878-XiMat	blood
47	chr7:7248600-7254200	Weak transcription	NHEK	skin
48	chr7:7248600-7257200	Weak transcription	HMEC	breast
49	chr7:7248600-7261400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:7248600-7263200	Weak transcription	Gastric	stomach

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