Variant report

Variant	rs12917557
Chromosome Location	chr15:74669671-74669672
allele	G/T
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74667817..74669337-chr15:74669430..74671433,2	MCF-7	breast:
2	chr15:74668862..74671518-chr15:74779484..74782858,3	MCF-7	breast:
3	chr15:74668521..74670719-chr15:74827986..74829879,2	K562	blood:
4	chr15:74668501..74671132-chr15:74677010..74678903,2	K562	blood:
5	chr15:74666968..74670060-chr15:74726920..74730762,3	K562	blood:
6	chr15:74669439..74671260-chr15:74771353..74773917,2	MCF-7	breast:
7	chr15:74667675..74669712-chr15:74724905..74727427,2	MCF-7	breast:
8	chr15:74667729..74671338-chr15:74726630..74730433,3	K562	blood:
9	chr15:74667595..74674345-chr15:74676249..74682092,7	K562	blood:
10	chr15:74665025..74668014-chr15:74668385..74670407,3	MCF-7	breast:
11	chr15:74668470..74670414-chr15:74780620..74782864,2	K562	blood:
12	chr15:74665248..74670570-chr15:74911003..74915113,6	MCF-7	breast:
13	chr15:74668788..74670486-chr15:74672737..74675181,2	K562	blood:
14	chr15:74667889..74669756-chr15:74688977..74690702,2	MCF-7	breast:
15	chr15:74665255..74670127-chr15:74905870..74910808,10	MCF-7	breast:
16	chr15:74668381..74670629-chr15:74728724..74730962,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261775	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000260103	Chromatin interaction
ENSG00000138623	Chromatin interaction
ENSG00000179335	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11632698	0.87[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11635047	0.84[CEU][hapmap];0.88[GIH][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs11638442	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12900028	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12906092	0.82[YRI][hapmap]
rs12912592	0.84[EUR][1000 genomes]
rs12917295	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1564783	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs2899825	0.86[ASW][hapmap];0.82[MEX][hapmap]
rs2959011	0.83[CEU][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap]
rs34578565	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35807116	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887134	0.84[CEU][hapmap]
rs4887135	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes]
rs56339065	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8039847	0.96[AFR][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	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
2	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
3	nsv904351	chr15:74638965-74697084	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv904352	chr15:74638965-74715205	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74666600-74673200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:74667000-74671200	Weak transcription	Thymus	Thymus
3	chr15:74667000-74671400	Weak transcription	Lung	lung
4	chr15:74667200-74676400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:74667400-74671200	Weak transcription	Esophagus	oesophagus
6	chr15:74667400-74673600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:74667400-74676800	Weak transcription	Colonic Mucosa	Colon
8	chr15:74667400-74691200	Enhancers	Placenta	Placenta
9	chr15:74667600-74670000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr15:74667600-74670600	Weak transcription	Primary T cells from cord blood	blood
11	chr15:74667600-74670600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:74667600-74670600	Weak transcription	HSMMtube	muscle
13	chr15:74667600-74671200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr15:74667600-74671200	Enhancers	GM12878-XiMat	blood
15	chr15:74667600-74671200	Weak transcription	HSMM	muscle
16	chr15:74667600-74671200	Weak transcription	HUVEC	blood vessel
17	chr15:74667600-74671400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:74667600-74671400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:74667600-74671400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr15:74667600-74671600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr15:74667600-74673800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:74667600-74674000	Weak transcription	NHDF-Ad	bronchial
23	chr15:74667600-74674600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr15:74667600-74675600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr15:74667600-74675800	Weak transcription	A549	lung
26	chr15:74667600-74676000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr15:74667600-74677600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:74667600-74677600	Weak transcription	Right Atrium	heart
29	chr15:74667800-74670400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:74667800-74670600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr15:74667800-74670600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr15:74667800-74670600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:74667800-74670600	Weak transcription	HMEC	breast
34	chr15:74667800-74670600	Weak transcription	NHEK	skin
35	chr15:74667800-74671000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr15:74667800-74671000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr15:74667800-74671000	Weak transcription	NH-A	brain
38	chr15:74667800-74671200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr15:74667800-74671200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:74667800-74671200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr15:74667800-74671200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr15:74667800-74671200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr15:74667800-74671200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr15:74667800-74671200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:74667800-74671200	Weak transcription	Spleen	Spleen
46	chr15:74667800-74671400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr15:74667800-74671400	Weak transcription	Osteobl	bone
48	chr15:74667800-74674600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr15:74667800-74675000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr15:74667800-74676000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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