Variant report

Variant	rs291417
Chromosome Location	chr2:191125867-191125868
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10168769	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10182490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10192319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10196444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10199308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10204936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11900898	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13406328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13414825	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1366676	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1595997	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16832459	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2067383	0.89[EUR][1000 genomes]
rs2119463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2119464	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2195466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2582734	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2582741	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2582756	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2582768	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2664250	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2664254	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2664257	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291408	0.90[ASN][1000 genomes]
rs291416	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291433	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291443	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs291454	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291473	0.89[EUR][1000 genomes]
rs2966469	0.96[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs59924974	0.83[EUR][1000 genomes]
rs61248221	0.84[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	nsv875620	chr2:191100723-191141593	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv875621	chr2:191117120-191177131	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191056800-191131800	Weak transcription	NHEK	skin
2	chr2:191060800-191180000	Weak transcription	Small Intestine	intestine
3	chr2:191089000-191128800	Weak transcription	Gastric	stomach
4	chr2:191099400-191131800	Weak transcription	HMEC	breast
5	chr2:191100000-191150400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:191100400-191128000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:191104400-191151000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:191105000-191180000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:191106200-191132200	Weak transcription	Hela-S3	cervix
10	chr2:191106600-191131800	Weak transcription	NHLF	lung
11	chr2:191107400-191150600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:191108000-191129400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:191108200-191129200	Weak transcription	Spleen	Spleen
14	chr2:191108200-191135400	Weak transcription	Right Ventricle	heart
15	chr2:191108200-191180000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:191109600-191126600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:191109600-191128000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:191109600-191135800	Weak transcription	Fetal Brain Female	brain
19	chr2:191109800-191132800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:191109800-191163000	Weak transcription	Brain Germinal Matrix	brain
21	chr2:191110000-191145400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:191112800-191126000	Strong transcription	Dnd41	blood
23	chr2:191115600-191162200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:191115600-191182000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:191115800-191126400	Weak transcription	Fetal Heart	heart
26	chr2:191116200-191131800	Weak transcription	HUVEC	blood vessel
27	chr2:191116200-191131800	Weak transcription	NHDF-Ad	bronchial
28	chr2:191116400-191135200	Weak transcription	K562	blood
29	chr2:191116600-191183200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr2:191117000-191126400	Weak transcription	Psoas Muscle	Psoas
31	chr2:191117000-191126400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:191117000-191128200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:191117400-191183600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:191118000-191126800	Strong transcription	Liver	Liver
35	chr2:191118600-191132000	Weak transcription	NH-A	brain
36	chr2:191119600-191126800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:191121000-191132000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:191121000-191181400	Weak transcription	Brain Angular Gyrus	brain
39	chr2:191121200-191145200	Weak transcription	Aorta	Aorta
40	chr2:191122800-191133800	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:191123000-191129400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:191123000-191131200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:191123200-191131200	Weak transcription	Fetal Thymus	thymus
44	chr2:191123200-191137200	Weak transcription	Pancreas	Pancrea
45	chr2:191123200-191142200	Weak transcription	Brain Anterior Caudate	brain
46	chr2:191123200-191145600	Weak transcription	Brain Substantia Nigra	brain
47	chr2:191123200-191145800	Weak transcription	HSMMtube	muscle
48	chr2:191123200-191150200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:191123200-191150200	Weak transcription	Brain Hippocampus Middle	brain
50	chr2:191123200-191177600	Weak transcription	Colonic Mucosa	Colon

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