Variant report

Variant	rs61931420
Chromosome Location	chr12:32185206-32185207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:32184129..32186800-chr12:32198545..32200849,2	K562	blood:
2	chr12:32168121..32171020-chr12:32184096..32185622,2	K562	blood:
3	chr12:32167636..32169968-chr12:32184518..32186741,2	K562	blood:
4	chr12:32184129..32187066-chr12:32199349..32202275,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10844095	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844096	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844097	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844100	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051740	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051741	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11051742	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11611160	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11611851	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11614740	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11615179	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12818365	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1716940	0.80[ASN][1000 genomes]
rs2594031	0.82[ASN][1000 genomes]
rs2683484	0.82[ASN][1000 genomes]
rs35108256	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4931598	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4931599	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56412847	0.82[ASN][1000 genomes]
rs60080778	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7952942	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7966112	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7966600	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7966771	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32166000-32186400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:32180200-32185400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:32180200-32196200	Weak transcription	Thymus	Thymus
4	chr12:32181200-32185600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:32181400-32192600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:32183000-32187400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:32183200-32185800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:32183200-32187400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:32183400-32185800	Enhancers	Primary hematopoietic stem cells	blood
10	chr12:32183400-32187200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:32183400-32187600	Enhancers	Fetal Intestine Small	intestine
12	chr12:32183800-32187600	Enhancers	HUVEC	blood vessel
13	chr12:32184000-32185400	Enhancers	Fetal Thymus	thymus
14	chr12:32184000-32185600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr12:32184000-32186800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr12:32184000-32187200	Enhancers	Fetal Muscle Leg	muscle
17	chr12:32184000-32187600	Enhancers	Fetal Intestine Large	intestine
18	chr12:32184200-32185600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr12:32184200-32185600	Enhancers	Ovary	ovary
20	chr12:32184200-32186000	Enhancers	Fetal Lung	lung
21	chr12:32184200-32186600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr12:32184200-32186800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:32184200-32187000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:32184400-32185400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:32184400-32185400	Weak transcription	Fetal Kidney	kidney
26	chr12:32184400-32186600	Weak transcription	Lung	lung
27	chr12:32184600-32185600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr12:32184600-32188200	Enhancers	K562	blood
29	chr12:32184600-32189600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:32184800-32185400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:32184800-32185600	Weak transcription	Psoas Muscle	Psoas
32	chr12:32185000-32185400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:32185000-32185600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:32185000-32192000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:32185200-32185400	Enhancers	H9 Cell Line	embryonic stem cell
36	chr12:32185200-32185400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:32185200-32185600	Enhancers	Fetal Heart	heart
38	chr12:32185200-32185600	Enhancers	Osteobl	bone
39	chr12:32185200-32187200	Enhancers	HUES6 Cell Line	embryonic stem cell

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