Variant report

Variant	rs7080895
Chromosome Location	chr10:52377172-52377173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:52373141..52377774-chr10:52378271..52384648,13	K562	blood:
2	chr10:52315813..52318278-chr10:52376288..52379260,2	K562	blood:
3	chr10:52355970..52358426-chr10:52377071..52379971,2	K562	blood:
4	chr10:52346092..52348176-chr10:52375554..52378162,2	K562	blood:

Variant related genes	Relation type
ENSG00000198964	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12241969	1.00[EUR][1000 genomes]
rs12267258	1.00[EUR][1000 genomes]
rs12571898	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12572578	1.00[EUR][1000 genomes]
rs16906575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16907261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4615973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55703887	1.00[EUR][1000 genomes]
rs55928478	1.00[EUR][1000 genomes]
rs56039956	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57040666	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57073115	1.00[EUR][1000 genomes]
rs57238750	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs57253864	1.00[EUR][1000 genomes]
rs57574235	1.00[EUR][1000 genomes]
rs57871603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60613759	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60974974	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61027189	1.00[EUR][1000 genomes]
rs61518314	1.00[EUR][1000 genomes]
rs61615406	1.00[EUR][1000 genomes]
rs7083978	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7093159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73318780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73320893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73320899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74131448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7908759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers 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	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers 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
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv469522	chr10:52276564-52447589	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv482564	chr10:52276564-52447589	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52365400-52379400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr10:52365600-52377200	Weak transcription	Primary T cells from cord blood	blood
3	chr10:52365800-52378200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr10:52366000-52381600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr10:52366600-52377800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr10:52367200-52377800	Weak transcription	Primary B cells from cord blood	blood
7	chr10:52367200-52379400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr10:52367400-52381400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:52367600-52378400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr10:52367600-52381400	Weak transcription	NHLF	lung
11	chr10:52367600-52381400	Weak transcription	Osteobl	bone
12	chr10:52369000-52378800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr10:52370200-52378400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr10:52370800-52378400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr10:52371000-52381200	Weak transcription	Fetal Stomach	stomach
16	chr10:52371200-52378200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr10:52371200-52381600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr10:52371800-52378400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr10:52372600-52381600	Weak transcription	Aorta	Aorta
20	chr10:52372800-52379200	Weak transcription	Fetal Brain Male	brain
21	chr10:52373000-52380600	Weak transcription	Fetal Intestine Small	intestine
22	chr10:52373200-52378400	Weak transcription	Brain Germinal Matrix	brain
23	chr10:52373200-52380600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr10:52373400-52378800	Weak transcription	Gastric	stomach
25	chr10:52374000-52378200	Weak transcription	Fetal Kidney	kidney
26	chr10:52374200-52378600	Weak transcription	Fetal Lung	lung
27	chr10:52374200-52381200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr10:52374400-52377800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:52374400-52378400	Weak transcription	Brain Substantia Nigra	brain
30	chr10:52374400-52380600	Weak transcription	Fetal Intestine Large	intestine
31	chr10:52374400-52381200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr10:52374400-52381600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr10:52374400-52381600	Weak transcription	Spleen	Spleen
34	chr10:52374600-52377800	Weak transcription	GM12878-XiMat	blood
35	chr10:52374600-52378200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr10:52374600-52378400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr10:52374600-52378400	Weak transcription	Esophagus	oesophagus
38	chr10:52374600-52379800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr10:52374600-52380800	Weak transcription	Fetal Muscle Leg	muscle
40	chr10:52374600-52381600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr10:52374800-52377800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr10:52374800-52378000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr10:52374800-52378000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr10:52374800-52378000	Weak transcription	HMEC	breast
45	chr10:52374800-52378200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr10:52374800-52378400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr10:52374800-52378600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:52374800-52380000	Weak transcription	HepG2	liver
49	chr10:52374800-52381600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr10:52375000-52378400	Weak transcription	H9 Cell Line	embryonic stem cell

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