Variant report

Variant	rs2196806
Chromosome Location	chr2:58300093-58300094
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	chr2:58291116..58293259-chr2:58298631..58301133,2	K562	blood:
2	chr2:58299665..58301921-chr2:58308891..58310952,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10445895	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10445896	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17049243	0.90[CEU][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap]
rs17049247	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs17049270	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs17049296	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17049298	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17049318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049334	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049339	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049351	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049366	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771206	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771211	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771212	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56246409	0.84[ASN][1000 genomes]
rs57471952	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59378271	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60152647	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73942293	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7577299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv999591	chr2:58214871-58316147	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv582097	chr2:58266099-58346966	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv874201	chr2:58269871-58350504	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv874202	chr2:58269871-58375688	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58274600-58302400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:58274800-58302200	Weak transcription	Aorta	Aorta
3	chr2:58274800-58317400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:58275000-58302600	Weak transcription	Esophagus	oesophagus
5	chr2:58275000-58302800	Weak transcription	Fetal Stomach	stomach
6	chr2:58275000-58305600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:58275000-58317400	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:58275000-58321600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:58275000-58326600	Weak transcription	Pancreas	Pancrea
10	chr2:58275800-58316800	Weak transcription	HMEC	breast
11	chr2:58279000-58319000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:58279400-58315600	Weak transcription	Dnd41	blood
13	chr2:58282400-58300400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:58282400-58301400	Weak transcription	Lung	lung
15	chr2:58282600-58350400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:58284200-58303800	Weak transcription	Gastric	stomach
17	chr2:58284200-58317600	Weak transcription	HepG2	liver
18	chr2:58284400-58325000	Weak transcription	NHEK	skin
19	chr2:58285200-58317000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:58286200-58302200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:58286200-58317600	Weak transcription	K562	blood
22	chr2:58286400-58302000	Weak transcription	Hela-S3	cervix
23	chr2:58286400-58317600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:58287200-58315800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:58288200-58311000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:58289400-58300200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:58290000-58301000	Weak transcription	Placenta	Placenta
28	chr2:58290400-58315800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:58291200-58301800	Weak transcription	Thymus	Thymus
30	chr2:58291200-58316400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:58291400-58302200	Weak transcription	Brain Substantia Nigra	brain
32	chr2:58291400-58302200	Weak transcription	Fetal Heart	heart
33	chr2:58291600-58305800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:58291600-58315600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:58291600-58316200	Weak transcription	HUVEC	blood vessel
36	chr2:58291600-58317800	Weak transcription	HSMM	muscle
37	chr2:58291600-58317800	Weak transcription	NH-A	brain
38	chr2:58291600-58319000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:58291600-58321800	Weak transcription	Fetal Thymus	thymus
40	chr2:58291600-58325000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:58291800-58306400	Weak transcription	HSMMtube	muscle
42	chr2:58291800-58318800	Weak transcription	Osteobl	bone
43	chr2:58292000-58316200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:58292200-58316200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:58292200-58319000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:58292200-58319000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:58292600-58302200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:58293400-58308000	Weak transcription	NHDF-Ad	bronchial
49	chr2:58294200-58320800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:58295400-58300200	ZNF genes & repeats	GM12878-XiMat	blood

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