Variant report

Variant	rs17169459
Chromosome Location	chr7:137636346-137636347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr7:137636293-137636377	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:137626054..137628754-chr7:137635805..137637429,2	MCF-7	breast:
2	chr7:137633836..137636789-chr7:137637124..137639935,5	MCF-7	breast:
3	chr7:137636062..137638871-chr7:137684906..137687004,3	MCF-7	breast:
4	chr7:137635412..137637600-chr7:137639096..137641353,3	MCF-7	breast:
5	chr7:137635084..137637925-chr7:137650642..137652343,2	MCF-7	breast:
6	chr7:137634203..137636594-chr7:137683571..137686182,2	K562	blood:
7	chr7:137634525..137637267-chr7:137652549..137655097,2	MCF-7	breast:
8	chr7:137618371..137620481-chr7:137634472..137636377,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237243	TF binding region
ENSG00000237243	Chromatin interaction
ENSG00000182158	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10224250	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs10260415	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10267160	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10488443	0.91[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13228781	0.91[CEU][hapmap]
rs13245803	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs1471436	0.91[CEU][hapmap]
rs17183616	0.91[CEU][hapmap]
rs17190292	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs17190987	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17275136	0.91[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs34100060	0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35859876	0.83[ASN][1000 genomes]
rs765857	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs7812168	0.91[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs9691292	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137618200-137637200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:137621200-137638000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:137621400-137651800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr7:137622000-137643000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr7:137622200-137636600	Weak transcription	Esophagus	oesophagus
6	chr7:137622200-137638200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:137622200-137643200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr7:137622400-137638400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:137625800-137637200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:137625800-137638200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:137626000-137637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:137626000-137637000	Weak transcription	NHEK	skin
13	chr7:137626000-137646200	Weak transcription	HMEC	breast
14	chr7:137626400-137637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:137626400-137637400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:137627400-137638200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:137628200-137637800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:137628600-137637200	Weak transcription	Colonic Mucosa	Colon
19	chr7:137628800-137636400	Weak transcription	Ovary	ovary
20	chr7:137628800-137636600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:137628800-137638600	Weak transcription	HUVEC	blood vessel
22	chr7:137629000-137638000	Weak transcription	Adipose Nuclei	Adipose
23	chr7:137629200-137637000	Weak transcription	Fetal Stomach	stomach
24	chr7:137629200-137638000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:137629200-137638000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:137629400-137636600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:137629400-137636800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:137629400-137637000	Weak transcription	Fetal Lung	lung
29	chr7:137629400-137637200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:137629400-137637200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:137629400-137637200	Weak transcription	HSMM	muscle
32	chr7:137629400-137637400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:137629400-137637400	Weak transcription	HSMMtube	muscle
34	chr7:137629400-137637600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:137629400-137637800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:137629400-137638000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:137629400-137638000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:137629400-137649600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:137630800-137638000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:137630800-137640200	Enhancers	Fetal Intestine Large	intestine
41	chr7:137631000-137638000	Weak transcription	Brain Angular Gyrus	brain
42	chr7:137631800-137639600	Enhancers	Stomach Mucosa	stomach
43	chr7:137631800-137643000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr7:137632000-137636400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:137632000-137640200	Enhancers	Duodenum Mucosa	Duodenum
46	chr7:137632400-137636400	Weak transcription	Fetal Muscle Leg	muscle
47	chr7:137632400-137637000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr7:137632800-137636600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:137632800-137636600	Enhancers	Liver	Liver
50	chr7:137632800-137638200	Weak transcription	Right Ventricle	heart

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