Variant report

Variant	rs12440952
Chromosome Location	chr15:74615292-74615293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74243196..74243740-chr15:74614599..74615555,2	K562	blood:
2	chr15:74614889..74615521-chr3:120277797..120278349,2	MCF-7	breast:
3	chr15:74419576..74420529-chr15:74614579..74615595,4	K562	blood:
4	chr15:74614136..74616902-chr15:74617695..74620669,2	K562	blood:
5	chr15:74358127..74358835-chr15:74614868..74615479,2	MCF-7	breast:
6	chr15:74346287..74347045-chr15:74614632..74615538,3	MCF-7	breast:
7	chr15:74604086..74605037-chr15:74614467..74615451,3	K562	blood:
8	chr15:74604204..74604761-chr15:74614716..74615372,2	MCF-7	breast:
9	chr15:74340758..74341346-chr15:74614631..74615308,2	MCF-7	breast:
10	chr15:74423851..74425420-chr15:74614158..74616775,2	K562	blood:
11	chr15:74265166..74265894-chr15:74614554..74615483,3	MCF-7	breast:
12	chr15:74603562..74604487-chr15:74614598..74615365,4	MCF-7	breast:
13	chr15:74346094..74347046-chr15:74614640..74615508,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167178	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11072478	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11632698	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs11635047	0.84[CEU][hapmap];0.89[EUR][1000 genomes]
rs11638442	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs12900028	0.81[EUR][1000 genomes]
rs12916765	0.84[EUR][1000 genomes]
rs12917295	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs1484216	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1564782	0.81[CEU][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes]
rs1564783	0.85[CEU][hapmap];0.85[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2277601	0.81[CEU][hapmap]
rs2277602	0.81[CEU][hapmap]
rs2277605	0.84[AFR][1000 genomes]
rs2279356	0.81[CEU][hapmap];0.82[AFR][1000 genomes]
rs2415239	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2930300	0.89[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2930301	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2930302	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2959003	0.87[EUR][1000 genomes]
rs2959004	0.81[CEU][hapmap]
rs2959005	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2959006	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2959007	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2959008	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2959011	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34578565	0.85[EUR][1000 genomes]
rs351189	0.81[ASN][1000 genomes]
rs4077581	0.80[CEU][hapmap]
rs4077582	0.81[CEU][hapmap]
rs4887134	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs4887135	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs56339065	0.85[EUR][1000 genomes]
rs68021814	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7173655	0.86[EUR][1000 genomes]
rs733434	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs751527	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs751528	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8031121	0.81[CEU][hapmap]
rs900798	0.89[EUR][1000 genomes]
rs900799	0.84[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs900800	0.80[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.83[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	nsv833054	chr15:74457643-74625283	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv428641	chr15:74555113-74724630	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv482615	chr15:74593625-74757962	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74604800-74623400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr15:74611000-74617200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr15:74612000-74657800	Weak transcription	Right Atrium	heart
4	chr15:74612800-74617400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:74612800-74618600	Weak transcription	Ovary	ovary
6	chr15:74613000-74618800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr15:74613200-74617600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr15:74613200-74617600	Weak transcription	Fetal Thymus	thymus
9	chr15:74613200-74619000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr15:74613200-74619000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:74613400-74615400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:74613400-74618800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:74613400-74618800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:74613400-74618800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr15:74613400-74619200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr15:74614200-74615800	Enhancers	Placenta	Placenta
17	chr15:74614400-74615600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:74614600-74615600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:74614800-74615400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr15:74614800-74615400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr15:74614800-74615400	Enhancers	Fetal Muscle Trunk	muscle
22	chr15:74614800-74615600	Enhancers	Spleen	Spleen
23	chr15:74615200-74615400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:74615200-74615400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr15:74615200-74615400	Flanking Active TSS	Hela-S3	cervix
26	chr15:74615200-74615600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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