Variant report

Variant	rs2040981
Chromosome Location	chr22:32165508-32165509
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:32148657..32151429-chr22:32161601..32165600,4	MCF-7	breast:
2	22:32162110-32166713..22:33208968-33216036	Hela-S3	cervix:
3	22:31936958-31958600..22:32162110-32166713	GM12878	blood:
4	22:31829733-31836635..22:32162110-32166713	GM12878	blood:
5	22:31976153-31978142..22:32162110-32166713	Hela-S3	cervix:
6	22:32150875-32154575..22:32162110-32166713	GM12878	blood:
7	22:32162110-32166713..22:32284948-32287956	GM12878	blood:

Variant related genes	Relation type
ENSG00000242251	Chromatin interaction
ENSG00000197047	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000227813	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000198089	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1013703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs1076674	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap]
rs11089530	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11089531	0.83[CEU][hapmap];0.81[AMR][1000 genomes]
rs11703040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11703079	1.00[CHB][hapmap]
rs11703102	1.00[CHB][hapmap]
rs11703104	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11703232	0.86[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11703275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11703810	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11703854	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11704129	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11704362	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11704377	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11705097	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11705235	1.00[CHB][hapmap]
rs11705329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12157989	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12158002	1.00[CHB][hapmap]
rs12159673	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12160120	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs131222	0.81[ASN][1000 genomes]
rs131224	0.81[ASN][1000 genomes]
rs131226	0.81[ASN][1000 genomes]
rs131228	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs131235	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs131237	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.81[ASN][1000 genomes]
rs131241	0.87[ASN][1000 genomes]
rs131243	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs131246	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs131251	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs131252	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs131254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs140079	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.81[ASN][1000 genomes]
rs140083	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs140085	0.87[ASN][1000 genomes]
rs16989374	1.00[CHB][hapmap]
rs16989529	0.86[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2413058	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3804088	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap]
rs4603881	0.87[ASN][1000 genomes]
rs55645350	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55699591	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5994417	1.00[CHB][hapmap]
rs5994424	0.81[ASN][1000 genomes]
rs5994436	0.83[CEU][hapmap];0.93[MEX][hapmap];0.84[TSI][hapmap]
rs5998066	1.00[CHB][hapmap]
rs5998068	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs5998079	1.00[CHB][hapmap]
rs5998080	1.00[CHB][hapmap]
rs5998085	1.00[CHB][hapmap]
rs5998093	0.81[ASN][1000 genomes]
rs5998095	0.81[ASN][1000 genomes]
rs5998098	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.81[ASN][1000 genomes]
rs5998099	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs5998103	0.81[ASN][1000 genomes]
rs5998113	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[MEX][hapmap];0.87[ASN][1000 genomes]
rs5998116	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998123	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5998133	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5998134	0.86[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5998135	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5998161	0.93[MEX][hapmap]
rs60136719	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60669705	0.81[ASN][1000 genomes]
rs61273982	0.87[ASN][1000 genomes]
rs62238893	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62238895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62238904	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62238906	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62238934	0.83[AMR][1000 genomes]
rs62240515	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62240684	0.81[ASN][1000 genomes]
rs62240686	0.81[ASN][1000 genomes]
rs62240687	0.81[ASN][1000 genomes]
rs7289259	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs7289535	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7289702	0.83[CEU][hapmap];0.83[AMR][1000 genomes]
rs7291898	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73162139	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs740227	0.81[ASN][1000 genomes]
rs8136047	1.00[CHB][hapmap]
rs8141719	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs81946	0.81[ASN][1000 genomes]
rs9619224	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060929	chr22:32102701-32176860	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32150400-32174200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:32150600-32172600	Weak transcription	Small Intestine	intestine
3	chr22:32150800-32212800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:32151000-32174400	Weak transcription	Psoas Muscle	Psoas
5	chr22:32151000-32210800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:32151200-32174800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:32151200-32181000	Weak transcription	NHDF-Ad	bronchial
8	chr22:32151400-32217400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr22:32151600-32170600	Weak transcription	HUVEC	blood vessel
10	chr22:32151600-32178200	Weak transcription	Stomach Mucosa	stomach
11	chr22:32151800-32173800	Weak transcription	HepG2	liver
12	chr22:32152200-32184000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr22:32152400-32167600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:32152400-32187000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:32153000-32166400	Strong transcription	Primary T cells from cord blood	blood
16	chr22:32153000-32181600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr22:32153200-32168800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:32153400-32187000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr22:32153800-32183800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr22:32154000-32170800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr22:32154000-32182000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr22:32154000-32188600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr22:32154200-32170000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr22:32154200-32170800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr22:32154200-32171000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr22:32154200-32180600	Strong transcription	Fetal Stomach	stomach
27	chr22:32154200-32184000	Strong transcription	Liver	Liver
28	chr22:32154400-32188200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr22:32156200-32166200	Strong transcription	Stomach Smooth Muscle	stomach
30	chr22:32156200-32170000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr22:32156200-32182200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr22:32156400-32168600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr22:32156400-32184000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr22:32156600-32167000	Strong transcription	Adipose Nuclei	Adipose
35	chr22:32156800-32172400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr22:32158400-32172000	Weak transcription	Fetal Brain Male	brain
37	chr22:32159000-32177000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr22:32159200-32168600	Strong transcription	Brain Anterior Caudate	brain
39	chr22:32159200-32169000	Strong transcription	Duodenum Mucosa	Duodenum
40	chr22:32159200-32171200	Strong transcription	Placenta	Placenta
41	chr22:32159200-32179600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr22:32159400-32184200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr22:32159600-32186600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr22:32159600-32207600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr22:32159800-32166200	Strong transcription	Primary B cells from cord blood	blood
46	chr22:32160200-32165800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr22:32160400-32166200	Strong transcription	Ovary	ovary
48	chr22:32160600-32167000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr22:32160600-32167200	Strong transcription	Colonic Mucosa	Colon
50	chr22:32160800-32166000	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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