Variant report

Variant	rs3795996
Chromosome Location	chr2:172337974-172337975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172337490..172340413-chr2:172341579..172343907,2	K562	blood:
2	chr2:172337093..172339286-chr2:172342901..172345235,2	K562	blood:
3	chr2:172337164..172339245-chr2:172345350..172347159,2	K562	blood:

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

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

rs_ID	r²[population]
rs16859368	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16859371	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16859373	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16859377	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16859380	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16859386	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16859390	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16859404	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16859405	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16859410	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17287497	0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs17287624	0.86[ASN][1000 genomes]
rs1882378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731984	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55711751	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55715902	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55716501	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55974181	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56065525	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56239048	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56273218	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56302833	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57165050	0.92[EUR][1000 genomes]
rs61021737	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61502503	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6759487	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs728651	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72882347	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs72882363	0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73021048	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73976175	0.96[EUR][1000 genomes]
rs9646734	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.90[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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172291800-172338200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:172292000-172341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:172298400-172339400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:172298600-172341400	Weak transcription	NHLF	lung
5	chr2:172300600-172338600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:172304800-172338800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:172306000-172348000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:172307800-172341200	Weak transcription	Right Ventricle	heart
9	chr2:172309600-172348400	Weak transcription	Fetal Heart	heart
10	chr2:172313400-172339800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:172324400-172340600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr2:172324600-172338200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:172324600-172340000	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:172324800-172340400	Strong transcription	Primary T cells from cord blood	blood
15	chr2:172324800-172341200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:172325000-172340200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:172325200-172338000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:172325200-172338600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:172325200-172340000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:172327000-172339600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:172327000-172346800	Weak transcription	Colonic Mucosa	Colon
22	chr2:172327200-172338600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:172327200-172339200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:172327200-172339400	Weak transcription	Pancreas	Pancrea
25	chr2:172327200-172341200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:172327200-172341600	Weak transcription	Brain Germinal Matrix	brain
27	chr2:172327200-172344000	Weak transcription	Gastric	stomach
28	chr2:172327200-172346600	Weak transcription	Thymus	Thymus
29	chr2:172327200-172348800	Weak transcription	Spleen	Spleen
30	chr2:172327400-172339400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:172327400-172340800	Weak transcription	Lung	lung
32	chr2:172327400-172341200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:172327400-172341200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:172327400-172341400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:172327400-172343400	Weak transcription	A549	lung
36	chr2:172327400-172346800	Weak transcription	Hela-S3	cervix
37	chr2:172327400-172347600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:172327600-172339000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr2:172327600-172339400	Weak transcription	Ovary	ovary
40	chr2:172327600-172344800	Weak transcription	Brain Anterior Caudate	brain
41	chr2:172327800-172346000	Weak transcription	Fetal Brain Male	brain
42	chr2:172328800-172339000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr2:172329000-172339800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr2:172329600-172338000	Strong transcription	Fetal Thymus	thymus
45	chr2:172330400-172346200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr2:172331400-172345800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:172331600-172339600	Weak transcription	Placenta	Placenta
48	chr2:172331800-172343400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:172332200-172338400	Weak transcription	Fetal Intestine Large	intestine
50	chr2:172332200-172340800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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