Variant report

Variant	rs829566
Chromosome Location	chr2:30692990-30692991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30684348..30687151-chr2:30692032..30693911,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1036941	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1060737	1.00[CHB][hapmap]
rs11127281	0.91[CEU][hapmap];0.85[CHB][hapmap]
rs11692096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11895131	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs11901266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1252619	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1252627	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1252632	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1252633	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1252634	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1252635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1252642	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1252645	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1286	0.81[ASN][1000 genomes]
rs1662943	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1662945	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1723172	0.95[AFR][1000 genomes]
rs17395007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17395091	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1807334	1.00[CHB][hapmap]
rs1869422	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2250956	1.00[CHB][hapmap]
rs2253299	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs2262947	0.84[ASN][1000 genomes]
rs2593436	0.83[ASN][1000 genomes]
rs2593445	0.91[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs2593446	1.00[CHB][hapmap]
rs2593473	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs2602795	0.83[ASN][1000 genomes]
rs2602796	0.84[ASN][1000 genomes]
rs2602803	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2602809	0.81[ASN][1000 genomes]
rs2609919	0.84[ASN][1000 genomes]
rs2609920	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs2609944	1.00[CHB][hapmap]
rs57484347	0.85[AFR][1000 genomes]
rs57637161	0.85[AFR][1000 genomes]
rs711236	0.85[AFR][1000 genomes]
rs711241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73922662	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7559747	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs829567	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs829568	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs829621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs829624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs829625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs829633	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs829640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829656	1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829657	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829678	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829688	0.85[AFR][1000 genomes]
rs829691	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829692	0.82[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs829697	0.82[CHB][hapmap]

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	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
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30671600-30694600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:30671600-30703400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:30671600-30704200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:30678400-30704200	Weak transcription	Fetal Stomach	stomach
5	chr2:30678600-30703800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:30678600-30710600	Weak transcription	NHLF	lung
7	chr2:30682400-30693400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:30682400-30704400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:30688200-30697600	Weak transcription	Thymus	Thymus
10	chr2:30688200-30703400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:30688400-30693400	Weak transcription	Fetal Kidney	kidney
12	chr2:30688400-30697200	Weak transcription	Right Ventricle	heart
13	chr2:30688400-30703400	Weak transcription	K562	blood
14	chr2:30688400-30703800	Weak transcription	Left Ventricle	heart
15	chr2:30688400-30704200	Weak transcription	Aorta	Aorta
16	chr2:30688400-30704600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:30688600-30694400	Weak transcription	Fetal Heart	heart
18	chr2:30688600-30695000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:30688600-30695200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:30688600-30710000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:30688800-30693000	Weak transcription	NHDF-Ad	bronchial
22	chr2:30688800-30695200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr2:30689000-30693400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:30689600-30694800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr2:30691600-30695000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:30691800-30693000	Weak transcription	A549	lung
27	chr2:30692200-30694600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:30692400-30693200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:30692400-30693200	Enhancers	Ovary	ovary
30	chr2:30692600-30693000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:30692600-30693200	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr2:30692800-30693600	Enhancers	HepG2	liver

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