Variant report

Variant	rs6493514
Chromosome Location	chr15:51914778-51914779
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:51895628..51897591-chr15:51913669..51916030,2	MCF-7	breast:
2	chr15:51914606..51918105-chr15:52309438..52311518,3	K562	blood:
3	chr15:43424880..43427064-chr15:51913097..51915072,2	MCF-7	breast:
4	chr15:51913469..51917109-chr15:52042794..52045514,3	MCF-7	breast:
5	chr14:51026899..51027640-chr15:51914645..51915479,2	HCT-116	colon:
6	chr10:106028507..106029210-chr15:51914666..51915329,2	MCF-7	breast:
7	chr15:51895386..51897033-chr15:51913625..51916763,3	K562	blood:
8	chr15:51898533..51902972-chr15:51911457..51915866,6	MCF-7	breast:
9	chr15:51893271..51898734-chr15:51911463..51916763,7	K562	blood:
10	chr15:51914529..51916927-chr15:52121179..52124043,2	MCF-7	breast:
11	chr15:51913874..51916144-chr15:52165568..52168116,2	MCF-7	breast:
12	chr15:51911576..51916583-chr15:52027382..52031699,5	MCF-7	breast:
13	chr15:51913842..51915651-chr15:52310480..52312908,3	MCF-7	breast:
14	chr15:51914559..51915482-chr9:91933369..91933927,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000138594	Chromatin interaction
ENSG00000263437	Chromatin interaction
ENSG00000128872	Chromatin interaction
ENSG00000137842	Chromatin interaction
ENSG00000187742	Chromatin interaction
ENSG00000259377	Chromatin interaction
ENSG00000065621	Chromatin interaction
ENSG00000069956	Chromatin interaction
ENSG00000104093	Chromatin interaction
ENSG00000198513	Chromatin interaction
ENSG00000140280	Chromatin interaction
ENSG00000259438	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1017679	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10851501	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11070861	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857716	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12324531	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441057	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12708427	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12901452	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12904173	0.82[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12904583	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1378892	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1378893	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1378894	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1378895	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1456295	1.00[CEU][hapmap];0.88[GIH][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1456297	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1471072	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1551657	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17524750	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17524906	0.82[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1840707	1.00[CEU][hapmap];0.83[GIH][hapmap];0.91[EUR][1000 genomes]
rs1902595	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902596	0.95[CEU][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2061425	0.95[CEU][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2252220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2414112	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2606134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2606136	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2606137	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2606138	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2606139	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2606141	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2606143	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2606145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2606146	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2607110	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2607112	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2607116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2607117	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs2622768	0.90[EUR][1000 genomes]
rs2622769	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2622770	1.00[CEU][hapmap];0.88[GIH][hapmap];0.91[EUR][1000 genomes]
rs28408214	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34448759	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34532503	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34662965	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34929849	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35011964	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35561856	0.81[EUR][1000 genomes]
rs3751585	0.82[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs4465557	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4774594	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4775954	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55725532	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56879579	0.86[EUR][1000 genomes]
rs61618680	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6493507	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493511	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6493512	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs716986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7180329	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7181921	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs8025974	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8026587	0.90[CEU][hapmap]
rs8027162	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8029731	0.90[EUR][1000 genomes]
rs897581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs956171	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9672605	0.90[EUR][1000 genomes]
rs9806214	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9944266	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][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	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv904219	chr15:51851999-51977159	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
3	nsv457139	chr15:51854718-51977159	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
4	nsv569407	chr15:51854718-51977159	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
5	nsv569408	chr15:51867172-51946100	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51911400-51915800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:51911600-51916000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr15:51912800-51914800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr15:51912800-51915000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:51912800-51915400	Active TSS	Primary T cells from cord blood	blood
6	chr15:51912800-51915400	Active TSS	Fetal Brain Female	brain
7	chr15:51912800-51915600	Active TSS	Brain Cingulate Gyrus	brain
8	chr15:51912800-51915800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:51912800-51915800	Active TSS	NHLF	lung
10	chr15:51912800-51916600	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr15:51913000-51914800	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr15:51913000-51915400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr15:51913000-51915600	Active TSS	Duodenum Mucosa	Duodenum
14	chr15:51913000-51915800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr15:51913000-51915800	Active TSS	Fetal Kidney	kidney
16	chr15:51913000-51916200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr15:51913200-51915400	Active TSS	K562	blood
18	chr15:51913200-51915600	Active TSS	Fetal Muscle Leg	muscle
19	chr15:51913200-51915600	Active TSS	Thymus	Thymus
20	chr15:51913200-51915800	Active TSS	NHDF-Ad	bronchial
21	chr15:51913400-51914800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:51913400-51915400	Active TSS	Primary monocytes fromperipheralblood	blood
23	chr15:51913400-51915600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:51913400-51915800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:51913400-51915800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:51913400-51915800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr15:51913400-51916000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:51913400-51916000	Active TSS	Fetal Brain Male	brain
29	chr15:51913400-51916000	Active TSS	Fetal Intestine Large	intestine
30	chr15:51913600-51915400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:51913600-51915400	Active TSS	GM12878-XiMat	blood
32	chr15:51913600-51915600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr15:51913600-51915600	Active TSS	Brain Angular Gyrus	brain
34	chr15:51913600-51915600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr15:51913600-51915600	Active TSS	Placenta	Placenta
36	chr15:51913600-51915600	Active TSS	Monocytes-CD14+_RO01746	blood
37	chr15:51913600-51915800	Active TSS	Brain Hippocampus Middle	brain
38	chr15:51913600-51915800	Active TSS	Fetal Stomach	stomach
39	chr15:51913600-51916000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:51913600-51916000	Active TSS	Brain Substantia Nigra	brain
41	chr15:51913600-51916000	Active TSS	Stomach Smooth Muscle	stomach
42	chr15:51913600-51916200	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr15:51913800-51915400	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr15:51913800-51915400	Active TSS	Osteobl	bone
45	chr15:51913800-51915600	Active TSS	Colon Smooth Muscle	Colon
46	chr15:51913800-51915600	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr15:51913800-51915600	Active TSS	A549	lung
48	chr15:51913800-51915800	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr15:51913800-51915800	Active TSS	Fetal Lung	lung
50	chr15:51913800-51915800	Active TSS	Fetal Muscle Trunk	muscle

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