Variant report

Variant	rs7485243
Chromosome Location	chr12:122052652-122052653
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122047181..122049485-chr12:122051845..122054810,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10770183	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10840610	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10840648	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10840650	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10840651	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11043181	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11043296	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11043306	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11043308	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11043316	0.82[EUR][1000 genomes]
rs11614109	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12304179	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12305333	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12315280	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12319633	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12322922	0.87[EUR][1000 genomes]
rs1983269	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28489288	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28552516	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28594507	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35806699	0.81[ASN][1000 genomes]
rs7484839	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7487117	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122028800-122064000	Weak transcription	Right Atrium	heart
2	chr12:122048800-122062800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:122048800-122062800	Weak transcription	Fetal Intestine Small	intestine
4	chr12:122049000-122053000	Weak transcription	HepG2	liver
5	chr12:122049400-122062800	Weak transcription	Thymus	Thymus
6	chr12:122049600-122052800	Weak transcription	Psoas Muscle	Psoas
7	chr12:122049600-122057600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:122049600-122057800	Weak transcription	Placenta	Placenta
9	chr12:122049800-122057000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:122049800-122062600	Weak transcription	Hela-S3	cervix
11	chr12:122050000-122052800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:122050000-122057600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:122050000-122057600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:122050000-122057800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:122050000-122063800	Weak transcription	Fetal Stomach	stomach
16	chr12:122050200-122062800	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:122051600-122057800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:122051800-122056600	Weak transcription	GM12878-XiMat	blood
19	chr12:122051800-122057800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:122052200-122054000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:122052400-122053800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr12:122052600-122053800	Enhancers	Primary T cells fromperipheralblood	blood

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