Variant report

Variant	rs17141597
Chromosome Location	chr7:8036663-8036664
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:8036138..8037716-chr7:8042545..8044678,2	K562	blood:
2	chr7:8007607..8011988-chr7:8034426..8038350,7	MCF-7	breast:
3	chr7:8029061..8031816-chr7:8036537..8038816,2	K562	blood:
4	chr7:8036346..8039148-chr7:8042456..8045408,2	MCF-7	breast:
5	chr7:8023684..8026582-chr7:8035460..8038247,2	MCF-7	breast:
6	chr7:8028828..8030747-chr7:8034985..8037908,2	MCF-7	breast:
7	chr7:8031148..8034343-chr7:8035102..8037694,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233108	Chromatin interaction
ENSG00000106415	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16872351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16872488	0.81[CHB][hapmap];0.92[AMR][1000 genomes]
rs17141865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17141876	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17142053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17142255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17142349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17142477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17142679	0.97[AMR][1000 genomes]
rs17142685	0.97[AMR][1000 genomes]
rs17142716	0.90[AMR][1000 genomes]
rs58145708	0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs58348680	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58707745	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59427694	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59437461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59697814	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60920460	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61351831	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62433384	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62433385	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62433405	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62433406	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62433407	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62433408	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62433442	0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62433444	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62433449	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62435365	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62435371	0.86[AMR][1000 genomes]
rs6463760	1.00[CEU][hapmap]
rs6955803	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs6956133	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs9640055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1030180	chr7:7860424-8059221	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv3346837	chr7:7915187-8068557	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1020161	chr7:7929384-8047553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8015000-8045000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:8029000-8039000	Weak transcription	Thymus	Thymus
3	chr7:8029200-8043600	Weak transcription	Small Intestine	intestine
4	chr7:8029600-8037200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:8029800-8046400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:8029800-8049000	Weak transcription	Fetal Heart	heart
7	chr7:8033200-8039000	Weak transcription	Dnd41	blood
8	chr7:8033600-8043600	Weak transcription	Primary B cells from cord blood	blood
9	chr7:8034600-8039000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:8035200-8038000	Weak transcription	Fetal Thymus	thymus
11	chr7:8035200-8045000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:8035600-8036800	Enhancers	Hela-S3	cervix
13	chr7:8035600-8038600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:8035800-8036800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr7:8035800-8036800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr7:8035800-8036800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:8035800-8037400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:8036000-8044200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:8036200-8036800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:8036200-8036800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:8036200-8036800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:8036200-8036800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:8036200-8036800	ZNF genes & repeats	GM12878-XiMat	blood
24	chr7:8036200-8037000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr7:8036200-8037000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr7:8036200-8037200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr7:8036400-8036800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:8036400-8041400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:8036400-8043600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:8036400-8044400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:8036400-8044400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:8036400-8045000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:8036400-8046600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:8036400-8077400	Weak transcription	Right Ventricle	heart
35	chr7:8036600-8039000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:8036600-8040800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:8036600-8044200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr7:8036600-8044600	Weak transcription	Osteobl	bone
39	chr7:8036600-8045600	Weak transcription	Liver	Liver
40	chr7:8036600-8045600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr7:8036600-8045800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:8036600-8045800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr7:8036600-8053800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr7:8036600-8057200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr7:8036600-8064400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:8036600-8064400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:8036600-8074600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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