Variant report

Variant	rs11614740
Chromosome Location	chr12:32186006-32186007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:32185942..32188780-chr12:32195326..32198101,2	K562	blood:
2	chr12:32184129..32186800-chr12:32198545..32200849,2	K562	blood:
3	chr12:32167636..32169968-chr12:32184518..32186741,2	K562	blood:
4	chr12:32111704..32113744-chr12:32185448..32187261,2	K562	blood:
5	chr12:32184129..32187066-chr12:32199349..32202275,2	K562	blood:
6	chr12:32185942..32189585-chr12:32195326..32198101,3	K562	blood:

Variant related genes	Relation type
ENSG00000174718	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10844095	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844096	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844097	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844100	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11051740	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11051741	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051742	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611160	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11611851	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11615179	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12818365	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1716940	0.81[ASN][1000 genomes]
rs2594031	0.82[ASN][1000 genomes]
rs2683484	0.82[ASN][1000 genomes]
rs35108256	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4931598	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4931599	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56412847	0.82[ASN][1000 genomes]
rs60080778	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61931420	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7952942	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7966112	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7966600	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7966771	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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:37 , 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	chr12:32180200-32196200	Weak transcription	Thymus	Thymus
3	chr12:32181400-32192600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:32183000-32187400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:32183200-32187400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:32183400-32187200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr12:32183400-32187600	Enhancers	Fetal Intestine Small	intestine
8	chr12:32183800-32187600	Enhancers	HUVEC	blood vessel
9	chr12:32184000-32186800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr12:32184000-32187200	Enhancers	Fetal Muscle Leg	muscle
11	chr12:32184000-32187600	Enhancers	Fetal Intestine Large	intestine
12	chr12:32184200-32186600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr12:32184200-32186800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:32184200-32187000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:32184400-32186600	Weak transcription	Lung	lung
16	chr12:32184600-32188200	Enhancers	K562	blood
17	chr12:32184600-32189600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:32185000-32192000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:32185200-32187200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr12:32185400-32186200	Enhancers	Fetal Kidney	kidney
21	chr12:32185400-32186400	Weak transcription	Fetal Thymus	thymus
22	chr12:32185400-32186800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr12:32185400-32186800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr12:32185400-32186800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:32185400-32192000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:32185600-32186200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:32185600-32186400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr12:32185600-32186400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:32185600-32186400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:32185600-32186600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:32185600-32186800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr12:32185600-32192000	Weak transcription	Ovary	ovary
33	chr12:32185600-32192800	Weak transcription	Fetal Heart	heart
34	chr12:32185800-32186200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:32185800-32187000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:32186000-32186200	Weak transcription	Psoas Muscle	Psoas
37	chr12:32186000-32186400	Weak transcription	Fetal Lung	lung

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