Variant report

Variant	rs60631634
Chromosome Location	chr12:32427835-32427836
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32418322..32421345-chr12:32425361..32428324,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10128975	0.82[ASN][1000 genomes]
rs12307772	0.82[ASN][1000 genomes]
rs12319221	0.82[ASN][1000 genomes]
rs16919495	0.82[ASN][1000 genomes]
rs56721887	1.00[ASN][1000 genomes]
rs56859103	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58801621	0.92[ASN][1000 genomes]
rs7316052	1.00[ASN][1000 genomes]
rs73310739	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32413400-32437600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:32418600-32428400	Weak transcription	Ovary	ovary
3	chr12:32424400-32434200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:32424600-32438000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:32425000-32433600	Weak transcription	HSMM	muscle
6	chr12:32425000-32437800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:32426600-32443400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:32426800-32429200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:32426800-32436400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:32426800-32436600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:32426800-32437200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:32426800-32437400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:32426800-32442800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:32426800-32443200	Weak transcription	NH-A	brain
15	chr12:32426800-32446800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:32427000-32433600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:32427000-32436200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:32427000-32436200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:32427000-32437800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:32427000-32438000	Weak transcription	Fetal Brain Female	brain
21	chr12:32427000-32443400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:32427000-32458600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:32427000-32459400	Weak transcription	Aorta	Aorta
24	chr12:32427000-32463000	Weak transcription	NHLF	lung
25	chr12:32427200-32435400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:32427200-32436200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:32427200-32463000	Weak transcription	Fetal Intestine Small	intestine
28	chr12:32427400-32437400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:32427400-32445200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:32427600-32454400	Weak transcription	Primary B cells from cord blood	blood
31	chr12:32427800-32436200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:32427800-32438200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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