Variant report

Variant	rs12912235
Chromosome Location	chr15:39000074-39000075
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:38999973..39000632-chr15:39145568..39146483,2	K562	blood:
2	chr15:38999758..39000677-chr15:39109720..39110502,3	K562	blood:
3	chr15:38999913..39002217-chr15:39871957..39874433,2	MCF-7	breast:
4	chr15:38997651..39000510-chr15:39873300..39874931,2	MCF-7	breast:
5	chr15:38999832..39000780-chr15:39109707..39110440,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137801	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10520103	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2624272	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2643204	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2643216	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102118	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102119	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3104150	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924291	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949171	chr15:38232548-39033746	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1046994	chr15:38806163-39239014	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv525770	chr15:38816833-39084956	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1054651	chr15:38827825-39082844	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv542358	chr15:38827825-39082844	Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr15:38994600-39000800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:38995400-39000200	Weak transcription	Fetal Intestine Small	intestine
3	chr15:38995400-39000400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr15:38995400-39002200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr15:38997400-39002000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr15:38998200-39000200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr15:38998200-39001000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:38998400-39000200	Weak transcription	Osteobl	bone
9	chr15:38998400-39000400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:38998400-39000400	Weak transcription	Fetal Stomach	stomach
11	chr15:38998400-39000400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr15:38998400-39000400	Weak transcription	HSMMtube	muscle
13	chr15:38998400-39000600	Weak transcription	NHLF	lung
14	chr15:38998600-39000400	Weak transcription	HSMM	muscle
15	chr15:38998600-39000400	Weak transcription	NH-A	brain
16	chr15:38998600-39000400	Weak transcription	NHDF-Ad	bronchial
17	chr15:38998800-39000200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr15:38999400-39001200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr15:38999400-39001400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr15:38999400-39001800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr15:38999600-39001600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr15:38999600-39006000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr15:38999800-39001800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr15:39000000-39001400	Enhancers	HUVEC	blood vessel
25	chr15:39000000-39001600	Enhancers	Fetal Kidney	kidney
26	chr15:39000000-39002800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:39000000-39003200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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