Variant report

Variant	rs866680
Chromosome Location	chr2:30720191-30720192
allele	G/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	chr2:30669035..30670943-chr2:30718081..30720596,2	MCF-7	breast:
4	chr2:30716986..30719566-chr2:30719646..30721612,2	MCF-7	breast:
5	chr2:30707407..30710110-chr2:30718002..30720308,3	K562	blood:
6	chr2:30719917..30724610-chr2:30726684..30729828,4	K562	blood:

Variant related genes	Relation type
ENSG00000172954	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10167083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs10175399	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs10183928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs10865520	0.85[EUR][1000 genomes]
rs1096109	0.86[EUR][1000 genomes]
rs12053428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs12468064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs1252625	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs1252631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs1252640	0.86[EUR][1000 genomes]
rs1252646	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs1252651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1252654	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs1525062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs1662946	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17009647	1.00[YRI][hapmap]
rs17009802	1.00[YRI][hapmap]
rs17009815	1.00[YRI][hapmap]
rs1869423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1869424	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1975555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs2121600	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2123753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs2177698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs2593442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2593455	0.83[EUR][1000 genomes]
rs2593474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2602767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2602808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2609917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2609945	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs3862977	0.86[EUR][1000 genomes]
rs4952147	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs6718986	1.00[YRI][hapmap]
rs6731031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs6740440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6759011	0.84[EUR][1000 genomes]
rs6761612	1.00[YRI][hapmap]
rs7566983	0.86[EUR][1000 genomes]
rs7583211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7591110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7592355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7605994	0.84[EUR][1000 genomes]
rs7606200	0.83[EUR][1000 genomes]
rs829563	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829564	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829574	0.85[JPT][hapmap]
rs829575	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs829581	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829582	0.85[JPT][hapmap]
rs829616	0.85[EUR][1000 genomes]
rs829617	0.85[EUR][1000 genomes]
rs829618	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs829619	0.85[JPT][hapmap]
rs829620	0.85[JPT][hapmap]
rs829622	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs829629	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs829630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs829631	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs829634	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829635	0.85[EUR][1000 genomes]
rs829637	0.86[EUR][1000 genomes]
rs829639	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829641	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs829642	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs829646	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs829653	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829654	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829655	0.85[JPT][hapmap]
rs829659	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs829660	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs829661	0.85[JPT][hapmap]
rs829664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs829669	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829671	0.85[JPT][hapmap]
rs829672	0.85[JPT][hapmap]
rs829673	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829675	0.85[JPT][hapmap]
rs829677	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829679	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829680	0.85[JPT][hapmap]
rs829681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829682	0.91[CEU][hapmap];0.85[JPT][hapmap]
rs829684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829694	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829695	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829696	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829699	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs829700	0.97[ASN][1000 genomes]
rs829701	0.90[ASN][1000 genomes]
rs844194	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs860487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	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	chr2:30704600-30720600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:30711400-30720600	Weak transcription	NHDF-Ad	bronchial
4	chr2:30711600-30723600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:30713000-30720600	Weak transcription	Primary T cells from cord blood	blood
6	chr2:30714400-30723600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:30715600-30723800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:30715600-30732800	Weak transcription	Hela-S3	cervix
9	chr2:30715800-30721400	Weak transcription	Stomach Mucosa	stomach
10	chr2:30716000-30720400	Weak transcription	Fetal Kidney	kidney
11	chr2:30716000-30720800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:30716000-30723800	Weak transcription	Ovary	ovary
13	chr2:30716000-30726000	Weak transcription	Aorta	Aorta
14	chr2:30716000-30727600	Weak transcription	Small Intestine	intestine
15	chr2:30716000-30728000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:30716200-30720600	Weak transcription	HSMM	muscle
17	chr2:30716200-30720600	Weak transcription	NHLF	lung
18	chr2:30716200-30726400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:30716200-30726600	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:30716600-30720800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:30716600-30723800	Weak transcription	Right Ventricle	heart
22	chr2:30717200-30720600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:30717800-30722600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
24	chr2:30718400-30721600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr2:30718400-30724600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
26	chr2:30718600-30722000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:30719000-30721200	ZNF genes & repeats	Primary B cells from cord blood	blood
28	chr2:30719000-30721400	ZNF genes & repeats	Dnd41	blood
29	chr2:30719600-30720400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr2:30719600-30722000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:30719800-30723800	Weak transcription	Left Ventricle	heart
32	chr2:30720000-30720200	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr2:30720000-30720400	Weak transcription	Fetal Lung	lung

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