Variant report

Variant	rs829669
Chromosome Location	chr2:30720752-30720753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30698458..30700282-chr2:30719941..30721798,2	K562	blood:
2	chr2:30714804..30716458-chr2:30719882..30722060,2	K562	blood:
3	chr2:30716986..30719566-chr2:30719646..30721612,2	MCF-7	breast:
4	chr2:30719917..30724610-chr2:30726684..30729828,4	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10167083	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs10175399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10183928	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs12053428	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs12468064	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs1252624	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1252625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1252631	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs1252646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1252651	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs1252654	1.00[JPT][hapmap]
rs1525062	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs1869423	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs1869424	0.93[CEU][hapmap]
rs1975555	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs2121600	0.86[CEU][hapmap]
rs2123753	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs2167969	0.89[EUR][1000 genomes]
rs2177698	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs2593442	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs2593474	0.93[CEU][hapmap];0.82[JPT][hapmap]
rs2602767	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs2602808	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs2609917	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs2609945	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs2692035	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4952147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6731031	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs6740440	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs6749074	0.87[EUR][1000 genomes]
rs7583211	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs7591110	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs7592355	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829563	0.85[CEU][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs829564	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829565	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829574	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs829578	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs829582	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs829583	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs829618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs829619	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs829620	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs829622	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs829630	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829631	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[EUR][1000 genomes]
rs829632	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs829641	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs829642	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs829646	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829653	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829654	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs829655	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs829659	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs829661	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs829662	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs829663	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs829664	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs829670	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs829671	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs829672	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs829673	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829675	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829680	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829681	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829682	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs829684	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829695	0.85[JPT][hapmap]
rs829696	0.85[JPT][hapmap]
rs829699	0.85[JPT][hapmap]
rs844194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs860487	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs866680	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs9309680	0.85[EUR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30697800-30720800	Weak transcription	Thymus	Thymus
2	chr2:30711600-30723600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:30714400-30723600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:30715600-30723800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:30715600-30732800	Weak transcription	Hela-S3	cervix
6	chr2:30715800-30721400	Weak transcription	Stomach Mucosa	stomach
7	chr2:30716000-30720800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:30716000-30723800	Weak transcription	Ovary	ovary
9	chr2:30716000-30726000	Weak transcription	Aorta	Aorta
10	chr2:30716000-30727600	Weak transcription	Small Intestine	intestine
11	chr2:30716000-30728000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:30716200-30726400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:30716200-30726600	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:30716600-30720800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:30716600-30723800	Weak transcription	Right Ventricle	heart
16	chr2:30717800-30722600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
17	chr2:30718400-30721600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr2:30718400-30724600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr2:30718600-30722000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:30719000-30721200	ZNF genes & repeats	Primary B cells from cord blood	blood
21	chr2:30719000-30721400	ZNF genes & repeats	Dnd41	blood
22	chr2:30719600-30722000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:30719800-30723800	Weak transcription	Left Ventricle	heart
24	chr2:30720200-30723200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:30720400-30721600	ZNF genes & repeats	Fetal Lung	lung
26	chr2:30720400-30724200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr2:30720600-30720800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:30720600-30721000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:30720600-30721200	ZNF genes & repeats	NHLF	lung
30	chr2:30720600-30721600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:30720600-30721600	ZNF genes & repeats	Primary T cells from cord blood	blood
32	chr2:30720600-30721600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr2:30720600-30724400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood

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