Variant report

Variant	rs3192177
Chromosome Location	chr2:98354511-98354512
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	chr2:98327141..98329201-chr2:98354402..98356223,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11678558	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11678591	0.91[CEU][hapmap];0.81[AMR][1000 genomes]
rs11679828	0.91[CEU][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes]
rs11680018	0.81[AMR][1000 genomes]
rs11680321	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11680883	0.81[AMR][1000 genomes]
rs11684749	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11686881	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs11687510	0.95[CEU][hapmap];0.80[GIH][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs11688829	0.91[CEU][hapmap];0.81[AMR][1000 genomes]
rs11691494	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11692010	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11692470	0.91[CEU][hapmap];0.81[AMR][1000 genomes]
rs12988571	0.91[CEU][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12995673	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13004090	0.81[AMR][1000 genomes]
rs13006932	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13020776	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13023980	0.91[CEU][hapmap];0.81[AMR][1000 genomes]
rs13028954	0.81[AMR][1000 genomes]
rs13032265	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13033383	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13034929	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1470483	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17488834	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs17488897	0.91[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17489454	0.91[CEU][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17489915	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17489984	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17490429	0.91[CEU][hapmap]
rs2044458	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2278700	0.91[CEU][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2305143	0.91[CEU][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2871183	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34149969	0.82[EUR][1000 genomes]
rs34502870	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34654057	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34974566	0.81[AMR][1000 genomes]
rs35218942	0.81[AMR][1000 genomes]
rs35424768	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35505530	0.81[AMR][1000 genomes]
rs4311104	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4851462	0.89[AFR][1000 genomes]
rs55776387	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs58546246	0.81[AMR][1000 genomes]
rs6711101	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6738389	0.91[CEU][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6748124	0.81[AMR][1000 genomes]
rs71412824	0.86[AMR][1000 genomes]
rs717417	0.86[AMR][1000 genomes]
rs7421146	0.90[CEU][hapmap];0.83[AMR][1000 genomes]
rs895438	0.91[CEU][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][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	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking 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	28 gene(s)	inside rSNPs	diseases
2	nsv874696	chr2:98309882-98362907	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3192177	ACTR1B	cis	Esophagus Muscularis	GTEx
rs3192177	CCHCR1	trans	lymphoblastoid	seeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98336400-98361400	Weak transcription	Primary B cells from cord blood	blood
2	chr2:98336600-98358800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:98337800-98357400	Strong transcription	Dnd41	blood
4	chr2:98338800-98358800	Strong transcription	Thymus	Thymus
5	chr2:98339600-98357200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:98341000-98354800	Weak transcription	Gastric	stomach
7	chr2:98342600-98357200	Strong transcription	Primary T cells from cord blood	blood
8	chr2:98343600-98357200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:98344800-98356400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:98344800-98356800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:98345000-98366400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:98346000-98357000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:98347000-98360600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:98347200-98357400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:98347200-98358800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:98347800-98356200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:98348200-98372400	Weak transcription	Esophagus	oesophagus
18	chr2:98348800-98355200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:98348800-98364600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:98349000-98356800	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:98349200-98356200	Strong transcription	Fetal Thymus	thymus
22	chr2:98350000-98360400	Weak transcription	Fetal Intestine Small	intestine
23	chr2:98351000-98357000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:98351600-98357200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:98352200-98398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:98352400-98356600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:98352800-98356400	Strong transcription	Spleen	Spleen
28	chr2:98353200-98354600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:98353400-98358400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:98354200-98355000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr2:98354200-98357200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:98354200-98357400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:98354400-98355600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:98354400-98358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:98354400-98368200	Weak transcription	Colonic Mucosa	Colon

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