Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105669318..105671725-chr12:105671991..105674954,2	K562	blood:
2	chr12:105670361..105673548-chr12:105673621..105675351,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10437893	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10778376	0.96[ASN][1000 genomes]
rs10778380	0.97[ASN][1000 genomes]
rs10861365	0.89[ASN][1000 genomes]
rs10861366	0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10861368	0.99[ASN][1000 genomes]
rs10861369	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11112418	0.81[ASN][1000 genomes]
rs11112435	0.92[ASN][1000 genomes]
rs11112439	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11112441	0.99[ASN][1000 genomes]
rs12228302	0.92[ASN][1000 genomes]
rs12306463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315510	0.97[ASN][1000 genomes]
rs12322134	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs3794232	0.84[CHB][hapmap];0.93[MEX][hapmap];0.81[ASN][1000 genomes]
rs56043130	0.98[ASN][1000 genomes]
rs6539199	0.96[ASN][1000 genomes]
rs7134323	0.97[ASN][1000 genomes]
rs7294681	1.00[CEU][hapmap]
rs73181847	0.96[ASN][1000 genomes]
rs7488014	1.00[CHB][hapmap];0.91[CHD][hapmap];0.88[JPT][hapmap];0.87[MEX][hapmap];0.90[ASN][1000 genomes]
rs7955095	0.99[ASN][1000 genomes]
rs7966106	0.84[CHB][hapmap];0.93[MEX][hapmap];0.81[ASN][1000 genomes]
rs7972263	0.99[ASN][1000 genomes]
rs7975125	0.80[ASN][1000 genomes]
rs7975197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634185	0.83[CHB][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1044450	chr12:105668451-105682822	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv510589	chr12:105670071-105743755	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105659600-105672200	Weak transcription	Aorta	Aorta
2	chr12:105664600-105672200	Weak transcription	HSMM	muscle
3	chr12:105665000-105674200	Weak transcription	Osteobl	bone
4	chr12:105665600-105674800	Weak transcription	NHDF-Ad	bronchial
5	chr12:105668200-105671800	Weak transcription	Fetal Intestine Small	intestine
6	chr12:105668200-105674800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:105668600-105673400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:105670400-105674600	Weak transcription	NHEK	skin
9	chr12:105670400-105674800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:105670600-105672000	Weak transcription	NHLF	lung
11	chr12:105670600-105675000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:105670600-105675000	Weak transcription	HMEC	breast
13	chr12:105671200-105673200	Enhancers	Fetal Intestine Large	intestine
14	chr12:105671400-105673800	Enhancers	Rectal Mucosa Donor 31	rectum

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