Variant report

Variant	rs326644
Chromosome Location	chr12:32401292-32401293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1239611	0.86[CHB][hapmap]
rs179104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs184469	0.85[CEU][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs2608396	0.85[CEU][hapmap];0.89[TSI][hapmap]
rs2632366	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2650124	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs326640	0.82[CEU][hapmap];0.85[TSI][hapmap]
rs326641	0.82[CEU][hapmap]
rs326642	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs326643	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs326645	1.00[CEU][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs326646	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7314519	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs811078	0.89[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs812645	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv832366	chr12:32328559-32511360	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32370200-32407800	Weak transcription	Hela-S3	cervix
2	chr12:32371200-32406800	Weak transcription	Primary T cells from cord blood	blood
3	chr12:32390600-32402400	Weak transcription	HSMMtube	muscle
4	chr12:32390800-32401600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:32390800-32405400	Weak transcription	Ovary	ovary
6	chr12:32390800-32410600	Weak transcription	Primary B cells from cord blood	blood
7	chr12:32391000-32401400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:32391200-32401600	Weak transcription	Aorta	Aorta
9	chr12:32391200-32405200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:32391200-32408000	Weak transcription	Fetal Brain Female	brain
11	chr12:32391200-32409200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:32391600-32402600	Weak transcription	HSMM	muscle
13	chr12:32391600-32408000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:32393600-32410400	Weak transcription	NHLF	lung
15	chr12:32393600-32423800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:32394000-32401600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:32394000-32401800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:32394000-32424200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:32394200-32405600	Weak transcription	A549	lung
20	chr12:32394400-32423800	Weak transcription	NH-A	brain
21	chr12:32394600-32414400	Weak transcription	HUVEC	blood vessel
22	chr12:32397400-32405400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:32398200-32401600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:32399400-32401800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:32399800-32401600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:32400400-32405400	Weak transcription	Dnd41	blood
27	chr12:32401000-32401800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr12:32401000-32401800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr12:32401000-32401800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:32401000-32402000	ZNF genes & repeats	Fetal Intestine Small	intestine
31	chr12:32401200-32401400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
32	chr12:32401200-32401800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr12:32401200-32401800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
34	chr12:32401200-32403200	Enhancers	NHEK	skin
35	chr12:32401200-32403400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:32401200-32403800	Enhancers	HMEC	breast

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