Variant report

Variant	rs11614625
Chromosome Location	chr12:119850667-119850668
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:119633765..119636889-chr12:119849565..119852732,3	MCF-7	breast:
2	chr12:119458483..119459134-chr12:119850426..119851166,2	MCF-7	breast:
3	chr12:119850295..119851264-chr12:119982488..119983086,2	MCF-7	breast:
4	chr12:119615640..119617708-chr12:119848864..119850771,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152137	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11064788	1.00[CEU][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296267	0.88[AFR][1000 genomes]
rs12304310	1.00[CEU][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320164	1.00[CEU][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322637	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16949273	1.00[ASN][1000 genomes]
rs7138164	1.00[ASN][1000 genomes]
rs7303237	0.83[CEU][hapmap]
rs73217222	1.00[ASN][1000 genomes]
rs7955745	1.00[ASN][1000 genomes]
rs7969150	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv899553	chr12:119837250-119876571	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119834400-119850800	Weak transcription	Right Ventricle	heart
2	chr12:119847400-119851000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:119848400-119850800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:119848600-119853000	Weak transcription	Placenta	Placenta
5	chr12:119849400-119851600	Enhancers	Rectal Smooth Muscle	rectum
6	chr12:119849600-119851000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr12:119849600-119851200	Enhancers	Colon Smooth Muscle	Colon
8	chr12:119849600-119851600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:119849800-119850800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:119850000-119851000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr12:119850400-119851600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:119850600-119850800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr12:119850600-119850800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:119850600-119850800	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr12:119850600-119850800	Enhancers	Brain Anterior Caudate	brain
16	chr12:119850600-119850800	Active TSS	Brain Germinal Matrix	brain
17	chr12:119850600-119850800	Active TSS	Brain Hippocampus Middle	brain
18	chr12:119850600-119851000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr12:119850600-119851000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr12:119850600-119851000	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr12:119850600-119851000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:119850600-119851000	Bivalent Enhancer	Fetal Stomach	stomach
23	chr12:119850600-119851200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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