Variant report

Variant	rs2993905
Chromosome Location	chr9:97374247-97374248
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97370762..97372454-chr9:97373877..97375549,2	K562	blood:
2	chr9:97373691..97376847-chr9:97393054..97396710,3	MCF-7	breast:
3	chr9:97368431..97370242-chr9:97374099..97376854,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1042144	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10993275	0.91[CEU][hapmap]
rs12238876	0.86[EUR][1000 genomes]
rs13284668	0.84[EUR][1000 genomes]
rs13291835	0.88[EUR][1000 genomes]
rs13296485	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16937175	0.95[CEU][hapmap]
rs1754435	0.95[CEU][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1754439	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2296708	0.81[EUR][1000 genomes]
rs2679599	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2679600	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2772022	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2790390	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28369670	0.88[EUR][1000 genomes]
rs2987897	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2993912	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2993958	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2993959	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2993961	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2993962	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4075984	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4743961	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs4744362	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs547834	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs548348	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs576745	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs583365	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs632506	0.86[EUR][1000 genomes]
rs67721291	0.81[EUR][1000 genomes]
rs8192689	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs874248	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97364400-97382800	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr9:97364800-97382800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr9:97365000-97375400	Genic enhancers	Fetal Intestine Small	intestine
4	chr9:97365000-97376200	Genic enhancers	Liver	Liver
5	chr9:97366600-97384400	Weak transcription	Small Intestine	intestine
6	chr9:97368400-97375200	Enhancers	Stomach Mucosa	stomach
7	chr9:97370000-97382400	Weak transcription	Lung	lung
8	chr9:97370600-97375200	Weak transcription	Colonic Mucosa	Colon
9	chr9:97371400-97401000	Weak transcription	Spleen	Spleen
10	chr9:97371600-97384200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:97372400-97384400	Weak transcription	Gastric	stomach
12	chr9:97373000-97381200	Weak transcription	Fetal Stomach	stomach
13	chr9:97373600-97374400	Enhancers	HepG2	liver
14	chr9:97373600-97374600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr9:97373600-97374600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr9:97373600-97374600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr9:97373800-97374400	Enhancers	Primary hematopoietic stem cells	blood
18	chr9:97373800-97374400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:97373800-97374600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
20	chr9:97373800-97374800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr9:97373800-97374800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr9:97373800-97374800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr9:97373800-97374800	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr9:97373800-97375400	Genic enhancers	Fetal Intestine Large	intestine
25	chr9:97373800-97375800	Enhancers	Pancreas	Pancrea
26	chr9:97374000-97374400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr9:97374000-97374600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr9:97374000-97374600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr9:97374000-97374600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr9:97374000-97374600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr9:97374000-97374600	Bivalent Enhancer	Thymus	Thymus
32	chr9:97374000-97374800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr9:97374000-97374800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr9:97374000-97374800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr9:97374000-97374800	Enhancers	Fetal Thymus	thymus
36	chr9:97374000-97375000	Enhancers	Duodenum Mucosa	Duodenum
37	chr9:97374200-97374400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
38	chr9:97374200-97374400	Enhancers	GM12878-XiMat	blood
39	chr9:97374200-97374400	Enhancers	NHEK	skin
40	chr9:97374200-97374600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr9:97374200-97374600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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