Variant report

Variant	rs60163848
Chromosome Location	chr17:45963839-45963840
allele	A/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45962839..45964351-chr17:45973505..45975412,2	K562	blood:
2	chr17:45928046..45933138-chr17:45958246..45966286,8	K562	blood:
3	chr17:45962826..45965067-chr17:46029549..46031610,2	MCF-7	breast:
4	chr17:45907369..45910442-chr17:45960677..45964479,4	MCF-7	breast:
5	chr17:45920242..45924382-chr17:45959879..45966158,9	MCF-7	breast:
6	chr17:45926244..45929145-chr17:45961186..45965001,5	MCF-7	breast:
7	chr17:45961070..45963855-chr17:45969315..45972508,3	MCF-7	breast:
8	chr17:45926557..45929901-chr17:45961355..45964268,4	MCF-7	breast:
9	chr17:45914114..45922201-chr17:45959661..45964608,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000141294	Chromatin interaction
ENSG00000141295	Chromatin interaction
ENSG00000159111	Chromatin interaction
ENSG00000189120	Chromatin interaction
ENSG00000167182	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12450849	1.00[EUR][1000 genomes]
rs12452989	1.00[EUR][1000 genomes]
rs12453958	1.00[EUR][1000 genomes]
rs2525089	1.00[ASN][1000 genomes]
rs2525099	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525100	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597167	1.00[ASN][1000 genomes]
rs2597176	1.00[ASN][1000 genomes]
rs2923063	1.00[ASN][1000 genomes]
rs56947799	1.00[ASN][1000 genomes]
rs60876341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61521088	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73985431	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73985445	1.00[ASN][1000 genomes]
rs9889272	1.00[EUR][1000 genomes]
rs9890122	1.00[EUR][1000 genomes]
rs9899629	1.00[EUR][1000 genomes]
rs9907614	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv908575	chr17:45957591-46049533	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 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	chr17:45954600-45964400	Enhancers	Fetal Intestine Large	intestine
2	chr17:45957600-45964200	Enhancers	Fetal Intestine Small	intestine
3	chr17:45958200-45964400	Enhancers	Placenta	Placenta
4	chr17:45960000-45971800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr17:45960000-45972200	Weak transcription	HUVEC	blood vessel
6	chr17:45960200-45964400	Enhancers	Colonic Mucosa	Colon
7	chr17:45960200-45965000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr17:45960400-45972000	Weak transcription	Colon Smooth Muscle	Colon
9	chr17:45962200-45970800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr17:45962200-45971800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:45962600-45964400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr17:45962600-45971200	Weak transcription	Gastric	stomach
13	chr17:45963000-45967200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:45963000-45971800	Weak transcription	Fetal Lung	lung
15	chr17:45963200-45965800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr17:45963200-45969200	Weak transcription	Stomach Mucosa	stomach
17	chr17:45963200-45971400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr17:45963200-45971400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr17:45963400-45964600	Weak transcription	Small Intestine	intestine
20	chr17:45963400-45967200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr17:45963400-45967200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr17:45963400-45967600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr17:45963400-45971400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr17:45963400-45971800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr17:45963400-45971800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr17:45963400-45971800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr17:45963400-45972000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr17:45963400-45972200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr17:45963400-45972600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr17:45963600-45965600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr17:45963600-45965600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr17:45963600-45965800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr17:45963600-45965800	Weak transcription	K562	blood
34	chr17:45963600-45966000	Weak transcription	A549	lung
35	chr17:45963600-45967200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr17:45963600-45967200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr17:45963600-45967200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr17:45963600-45967600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr17:45963600-45970800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:45963600-45971600	Weak transcription	Fetal Muscle Leg	muscle
41	chr17:45963600-45971800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr17:45963600-45972000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr17:45963600-45972000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr17:45963600-45972200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr17:45963600-45972400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr17:45963800-45964200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr17:45963800-45967200	Weak transcription	Fetal Thymus	thymus

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