Variant report

Variant	rs2778904
Chromosome Location	chr9:101338331-101338332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:101336173..101338737-chr9:101536498..101538853,2	K562	blood:
2	chr9:101299271..101301667-chr9:101337851..101340392,3	K562	blood:
3	chr9:100985884..100987552-chr9:101338136..101340156,2	K562	blood:
4	chr9:101337939..101341594-chr9:101346528..101349148,3	K562	blood:
5	chr9:101336976..101339152-chr9:101342550..101344694,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1167762	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1186021	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17778857	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2778905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2778908	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2779524	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2779525	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2779528	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2808530	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2808531	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2808532	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2808535	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2808538	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[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	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv831665	chr9:101170061-101367692	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv614936	chr9:101182698-101680380	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv6633	chr9:101308371-101342811	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv1040325	chr9:101328103-101354107	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv466438	chr9:101328200-101361584	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv614949	chr9:101328200-101361584	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101332800-101355600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr9:101333400-101339800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:101335000-101340000	Weak transcription	Fetal Intestine Large	intestine
4	chr9:101335000-101340000	Weak transcription	Fetal Intestine Small	intestine
5	chr9:101337000-101339400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr9:101337400-101338400	Enhancers	HMEC	breast
7	chr9:101337400-101338600	Enhancers	NH-A	brain
8	chr9:101337400-101338800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr9:101337400-101339000	Enhancers	Primary hematopoietic stem cells	blood
10	chr9:101337600-101338400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:101337600-101338400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:101337600-101338400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr9:101337600-101338600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr9:101337600-101338600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr9:101337600-101338800	Enhancers	Spleen	Spleen
16	chr9:101337600-101338800	Flanking Active TSS	K562	blood
17	chr9:101337600-101339000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr9:101337600-101339000	Flanking Active TSS	GM12878-XiMat	blood
19	chr9:101337800-101338400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:101337800-101338400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr9:101337800-101338400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr9:101337800-101338400	Enhancers	A549	lung
23	chr9:101337800-101338600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:101337800-101338600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr9:101337800-101338600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr9:101337800-101338600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr9:101337800-101338800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr9:101337800-101338800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr9:101337800-101338800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr9:101337800-101339000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:101338000-101338400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:101338000-101338400	Enhancers	Placenta	Placenta
33	chr9:101338000-101338600	Enhancers	Primary B cells from peripheral blood	blood
34	chr9:101338000-101338600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr9:101338000-101338600	Bivalent Enhancer	Fetal Thymus	thymus
36	chr9:101338000-101338800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:101338000-101338800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr9:101338000-101339000	Enhancers	Dnd41	blood
39	chr9:101338200-101338400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:101338200-101338600	Enhancers	Gastric	stomach
41	chr9:101338200-101338800	Enhancers	Primary T cells fromperipheralblood	blood

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