Variant report

Variant	rs17748198
Chromosome Location	chr7:66425626-66425627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66424885..66426980-chr7:66429795..66432252,2	MCF-7	breast:
2	chr7:66425545..66427923-chr7:66455922..66457546,2	K562	blood:
3	chr7:66421917..66425693-chr7:66427174..66429869,5	K562	blood:
4	chr7:66424823..66427121-chr7:66447406..66450272,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10950054	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10950055	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11762354	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12668022	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12673366	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17747939	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17748121	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35244862	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3735155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3823610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4718429	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4718433	1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap]
rs6960230	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6974046	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[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	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66387600-66428000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:66400600-66426400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:66403400-66426000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr7:66403400-66426400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:66403600-66426400	Strong transcription	Thymus	Thymus
6	chr7:66403600-66426600	Strong transcription	Fetal Stomach	stomach
7	chr7:66403800-66425800	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr7:66406000-66426400	Strong transcription	Fetal Thymus	thymus
9	chr7:66406600-66425800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:66406600-66425800	Strong transcription	Liver	Liver
11	chr7:66406600-66425800	Strong transcription	Fetal Brain Female	brain
12	chr7:66406600-66426400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr7:66406800-66425800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:66406800-66425800	Strong transcription	Adipose Nuclei	Adipose
15	chr7:66406800-66426000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr7:66406800-66426000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:66409400-66425800	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr7:66409800-66425800	Strong transcription	Brain Germinal Matrix	brain
19	chr7:66417400-66425800	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:66417800-66425800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:66418000-66425800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:66418000-66425800	Strong transcription	Lung	lung
23	chr7:66418000-66426600	Strong transcription	Spleen	Spleen
24	chr7:66418000-66427000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:66418200-66425800	Strong transcription	Placenta	Placenta
26	chr7:66418200-66426400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:66418200-66426400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:66418200-66426600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:66418200-66426800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:66418400-66426200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr7:66418400-66426400	Weak transcription	Small Intestine	intestine
32	chr7:66418400-66427200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:66418800-66426400	Strong transcription	A549	lung
34	chr7:66420600-66459200	Weak transcription	Psoas Muscle	Psoas
35	chr7:66421000-66427200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr7:66421400-66428000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:66421400-66429200	Weak transcription	Fetal Brain Male	brain
38	chr7:66421400-66435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:66422000-66427000	Strong transcription	NHLF	lung
40	chr7:66422600-66426400	Strong transcription	Esophagus	oesophagus
41	chr7:66422600-66430400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:66422800-66425800	Strong transcription	Gastric	stomach
43	chr7:66422800-66425800	Strong transcription	Pancreas	Pancrea
44	chr7:66422800-66427000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:66422800-66428200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:66423200-66425800	Strong transcription	Right Ventricle	heart
47	chr7:66423200-66426400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:66423200-66426800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr7:66423200-66427200	Weak transcription	Colon Smooth Muscle	Colon
50	chr7:66423200-66429400	Weak transcription	NHDF-Ad	bronchial

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