Variant report

Variant	rs9895188
Chromosome Location	chr17:46517749-46517750
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46515918..46518045-chr17:46519847..46521809,2	K562	blood:
2	chr17:46516365..46518843-chr17:46533348..46535328,2	K562	blood:
3	chr17:46516289..46518100-chr17:46524558..46526108,2	K562	blood:
4	chr17:46340880..46343379-chr17:46515799..46517839,2	K562	blood:
5	chr17:46511985..46515396-chr17:46515822..46520337,5	K562	blood:
6	chr17:46514248..46517781-chr17:46547190..46550869,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12326027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954937	1.00[ASN][1000 genomes]
rs16955293	1.00[ASN][1000 genomes]
rs16955495	1.00[ASN][1000 genomes]
rs16956835	1.00[ASN][1000 genomes]
rs28566062	1.00[ASN][1000 genomes]
rs6504258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7210852	1.00[ASN][1000 genomes]
rs7213163	1.00[EUR][1000 genomes]
rs7214998	1.00[ASN][1000 genomes]
rs8073595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8074088	1.00[EUR][1000 genomes]
rs8074754	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8074951	1.00[ASN][1000 genomes]
rs9303545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9891014	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9891149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9898743	1.00[EUR][1000 genomes]
rs9901714	1.00[EUR][1000 genomes]
rs9901750	1.00[EUR][1000 genomes]
rs9903647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9908054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9908741	1.00[EUR][1000 genomes]
rs9911434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9916477	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv2761960	chr17:46504489-46529846	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46508000-46517800	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr17:46508200-46517800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr17:46510600-46519000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:46510600-46524000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr17:46511600-46518000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr17:46512400-46518000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr17:46512600-46524200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr17:46513600-46523800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:46513800-46520800	Enhancers	Fetal Thymus	thymus
10	chr17:46514200-46519000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr17:46514800-46522000	Enhancers	Primary B cells from peripheral blood	blood
12	chr17:46515400-46518000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:46515400-46520600	Enhancers	Primary hematopoietic stem cells	blood
14	chr17:46515400-46522800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr17:46515600-46520600	Enhancers	Thymus	Thymus
16	chr17:46515800-46518200	Enhancers	Fetal Kidney	kidney
17	chr17:46515800-46522600	Enhancers	K562	blood
18	chr17:46515800-46524000	Enhancers	Primary B cells from cord blood	blood
19	chr17:46516000-46519600	Enhancers	Duodenum Mucosa	Duodenum
20	chr17:46516200-46518200	Bivalent Enhancer	Fetal Lung	lung
21	chr17:46516600-46518800	Flanking Active TSS	GM12878-XiMat	blood
22	chr17:46516600-46520600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr17:46517000-46517800	Enhancers	Pancreas	Pancrea
24	chr17:46517000-46518000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:46517000-46518200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr17:46517200-46518000	Enhancers	Fetal Intestine Large	intestine
27	chr17:46517200-46518400	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr17:46517200-46518800	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr17:46517200-46518800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr17:46517200-46518800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr17:46517200-46519000	Enhancers	Adipose Nuclei	Adipose
32	chr17:46517200-46520600	Enhancers	Dnd41	blood
33	chr17:46517400-46517800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr17:46517400-46517800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:46517400-46517800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
36	chr17:46517400-46517800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr17:46517400-46517800	Enhancers	Gastric	stomach
38	chr17:46517400-46518000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:46517400-46518600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr17:46517400-46520400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr17:46517600-46518000	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr17:46517600-46518600	Enhancers	Spleen	Spleen
43	chr17:46517600-46518800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr17:46517600-46518800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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