Variant report

Variant	rs2594033
Chromosome Location	chr12:32192156-32192157
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	chr12:32192092..32194335-chr12:32198674..32200576,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10047611	0.87[AFR][1000 genomes]
rs10466826	0.87[EUR][1000 genomes]
rs11609494	0.89[ASN][1000 genomes]
rs12227621	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12227639	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12229060	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12296345	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12309676	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12582434	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1260155	0.89[ASN][1000 genomes]
rs1260166	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1684125	0.88[ASN][1000 genomes]
rs1684126	0.88[ASN][1000 genomes]
rs1798258	0.88[ASN][1000 genomes]
rs1798576	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1798577	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1798589	0.88[ASN][1000 genomes]
rs1798591	0.88[ASN][1000 genomes]
rs1798600	0.81[ASN][1000 genomes]
rs2243419	0.92[ASN][1000 genomes]
rs2388966	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2388967	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2630564	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2630588	0.88[ASN][1000 genomes]
rs2630592	0.88[ASN][1000 genomes]
rs2652001	0.92[ASN][1000 genomes]
rs2668285	0.88[ASN][1000 genomes]
rs2683482	0.88[EUR][1000 genomes]
rs2683501	0.88[ASN][1000 genomes]
rs2942082	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4001871	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4001872	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4442627	0.81[ASN][1000 genomes]
rs4931600	0.85[AFR][1000 genomes]
rs59062440	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61926348	0.82[EUR][1000 genomes]
rs61926350	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61926352	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61926353	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7133470	0.84[AFR][1000 genomes]
rs7295692	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7303247	0.88[ASN][1000 genomes]
rs7485882	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs901331	0.92[ASN][1000 genomes]
rs901332	0.92[ASN][1000 genomes]
rs901333	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv3430326	chr12:32142734-32216569	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	esv3410287	chr12:32142734-32219420	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv2761731	chr12:32177270-32206870	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32180200-32196200	Weak transcription	Thymus	Thymus
2	chr12:32181400-32192600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:32185600-32192800	Weak transcription	Fetal Heart	heart
4	chr12:32186600-32192200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:32186800-32192200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:32186800-32192200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:32186800-32192200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:32186800-32192400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:32186800-32192600	Weak transcription	Fetal Kidney	kidney
10	chr12:32187000-32192200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:32187200-32192400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:32187600-32193000	Weak transcription	Fetal Intestine Large	intestine
13	chr12:32187600-32193400	Weak transcription	Fetal Intestine Small	intestine
14	chr12:32190200-32195000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:32190800-32193000	Enhancers	K562	blood
16	chr12:32191600-32192800	Weak transcription	Fetal Lung	lung
17	chr12:32192000-32192600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:32192000-32192600	Enhancers	Fetal Muscle Leg	muscle
19	chr12:32192000-32193000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr12:32192000-32193200	Enhancers	Ovary	ovary
21	chr12:32192000-32193600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr12:32192000-32193600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr12:32192000-32193800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:32192000-32193800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:32192000-32193800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr12:32192000-32193800	Enhancers	Fetal Stomach	stomach
27	chr12:32192000-32194200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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