Variant report

Variant	rs140079
Chromosome Location	chr22:32110943-32110944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr22:32110719-32112312	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr22:32110449-32110966	HL-60	blood:	n/a	n/a
3	POLR2A	chr22:32107803-32112712	K562	blood:	n/a	n/a
4	GATA2	chr22:32110816-32111945	SH-SY5Y	brain:	n/a	chr22:32111206-32111220
5	GATA3	chr22:32110860-32111791	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr22:32110889-32111813	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr22:32110930-32112071	SH-SY5Y	brain:	n/a	n/a
8	MXI1	chr22:32110151-32112213	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	22:31836635-31847259..22:32110635-32115702	Hela-S3	cervix:
2	22:32110635-32115702..22:32860159-32865649	K562	blood:
3	22:32110635-32115702..22:32170492-32188129	GM12878	blood:
4	chr22:32110777..32113551-chr22:32120326..32122209,2	MCF-7	breast:
5	22:32110635-32115702..22:32342898-32343477	GM12878	blood:

Variant related genes	Relation type
PRR14L	TF binding region
ENSG00000184459	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000100150	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs1013703	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[MEX][hapmap];0.93[ASN][1000 genomes]
rs1076674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11089530	0.87[ASN][1000 genomes]
rs11703040	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs11703079	1.00[CHB][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs11703102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11703104	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs11703232	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.87[ASN][1000 genomes]
rs11703275	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs11703810	0.87[ASN][1000 genomes]
rs11703854	0.87[ASN][1000 genomes]
rs11704129	1.00[CHB][hapmap]
rs11704362	0.93[ASN][1000 genomes]
rs11704377	0.87[ASN][1000 genomes]
rs11705097	0.87[ASN][1000 genomes]
rs11705235	1.00[CHB][hapmap];0.84[MEX][hapmap]
rs11705329	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.93[ASN][1000 genomes]
rs12157427	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12157989	0.87[ASN][1000 genomes]
rs12158002	1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs12159673	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12160120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12160737	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12166848	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs131222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131224	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131226	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs131228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131231	0.92[MEX][hapmap]
rs131235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131237	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131241	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs131243	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs131246	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs131251	0.93[ASN][1000 genomes]
rs131252	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs131254	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.93[ASN][1000 genomes]
rs140083	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs140085	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16989291	1.00[MEX][hapmap]
rs16989374	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs16989529	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.87[ASN][1000 genomes]
rs16989540	0.84[MEX][hapmap]
rs16989600	0.84[MEX][hapmap]
rs16989601	0.84[MEX][hapmap]
rs2040981	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.81[ASN][1000 genomes]
rs2051583	0.84[MEX][hapmap]
rs2413058	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28374732	0.89[AMR][1000 genomes]
rs3804088	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4603881	0.93[ASN][1000 genomes]
rs55645350	0.87[ASN][1000 genomes]
rs55699591	0.87[ASN][1000 genomes]
rs56406828	0.83[AMR][1000 genomes]
rs5753682	0.85[MEX][hapmap]
rs5753753	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5994417	1.00[CHB][hapmap]
rs5994424	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994436	0.88[GIH][hapmap]
rs5998065	0.82[AMR][1000 genomes]
rs5998066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5998068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5998070	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5998071	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5998074	0.92[MEX][hapmap]
rs5998079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998080	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998081	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998082	0.85[AMR][1000 genomes]
rs5998084	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998085	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998089	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998091	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998093	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998095	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998098	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998099	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998103	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998113	0.93[ASN][1000 genomes]
rs5998114	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[MEX][hapmap];0.93[ASN][1000 genomes]
rs5998115	0.84[MEX][hapmap]
rs5998116	0.93[ASN][1000 genomes]
rs5998123	0.87[ASN][1000 genomes]
rs5998133	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.87[ASN][1000 genomes]
rs5998134	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.87[ASN][1000 genomes]
rs5998135	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs5998144	0.84[MEX][hapmap]
rs60136719	0.87[ASN][1000 genomes]
rs60209974	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60669705	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61273982	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62238893	0.87[ASN][1000 genomes]
rs62238895	0.87[ASN][1000 genomes]
rs62238904	0.87[ASN][1000 genomes]
rs62238906	0.87[ASN][1000 genomes]
rs62239167	0.86[AMR][1000 genomes]
rs62239185	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62239186	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62239187	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62239188	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62240515	0.93[ASN][1000 genomes]
rs62240684	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62240686	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62240687	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289259	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs7289535	0.81[ASN][1000 genomes]
rs7291898	0.87[ASN][1000 genomes]
rs73162139	0.93[ASN][1000 genomes]
rs740227	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8136047	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8141719	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8143084	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs81946	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9619221	0.85[AMR][1000 genomes]
rs9619222	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9619224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9621307	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9621316	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]

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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32073400-32111800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:32078000-32111400	Strong transcription	Fetal Intestine Small	intestine
3	chr22:32078400-32111800	Strong transcription	Fetal Stomach	stomach
4	chr22:32078800-32126000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:32079000-32113800	Strong transcription	Fetal Muscle Trunk	muscle
6	chr22:32080400-32121400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr22:32081200-32126400	Weak transcription	Stomach Mucosa	stomach
8	chr22:32089200-32113800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr22:32089400-32126000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr22:32092000-32113800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr22:32095400-32113400	Strong transcription	Fetal Intestine Large	intestine
12	chr22:32098600-32111600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr22:32099600-32111400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr22:32102800-32112200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr22:32102800-32123000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr22:32103000-32125000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr22:32103200-32113400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr22:32103200-32113600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr22:32103600-32113400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr22:32103600-32113600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:32103800-32111400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:32103800-32113800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr22:32104400-32113400	Strong transcription	Fetal Muscle Leg	muscle
24	chr22:32104400-32113600	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr22:32104400-32113800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr22:32104400-32113800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr22:32104400-32114200	Strong transcription	Thymus	Thymus
28	chr22:32104600-32113400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr22:32104600-32113600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr22:32104600-32113800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr22:32104600-32114000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:32105000-32121400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr22:32105000-32124000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr22:32105000-32124200	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr22:32105200-32113400	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr22:32105200-32113400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr22:32105200-32113600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr22:32105200-32113600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr22:32105200-32114200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr22:32105200-32123600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr22:32105400-32124200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr22:32105600-32113400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr22:32105800-32113200	Strong transcription	Adipose Nuclei	Adipose
44	chr22:32105800-32113600	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr22:32105800-32113600	Strong transcription	Liver	Liver
46	chr22:32105800-32113800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr22:32105800-32113800	Strong transcription	Fetal Brain Female	brain
48	chr22:32105800-32113800	Strong transcription	NHDF-Ad	bronchial
49	chr22:32105800-32123200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr22:32105800-32124600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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