Variant report

Variant	rs17122915
Chromosome Location	chr1:62477947-62477948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62477919..62478756-chr9:3062250..3062792,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10493315	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10493316	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10493317	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12084877	0.96[ASN][1000 genomes]
rs12562199	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12563258	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17122889	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17122892	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17122904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122931	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2297495	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3762445	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58529158	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59829581	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67035896	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67417917	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67456403	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67526244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67622686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67719504	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67867258	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67967624	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs68081851	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72914078	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7538799	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518627	chr1:62279594-62517947	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv522020	chr1:62279594-62517947	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv531876	chr1:62302313-62504349	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1001667	chr1:62407786-62649838	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	esv2753481	chr1:62424207-62478878	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv546416	chr1:62437872-62492215	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62385000-62494200	Weak transcription	Aorta	Aorta
2	chr1:62409200-62518600	Weak transcription	Pancreas	Pancrea
3	chr1:62424200-62494200	Weak transcription	Esophagus	oesophagus
4	chr1:62444200-62479200	Weak transcription	Fetal Intestine Small	intestine
5	chr1:62446600-62487600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:62447400-62481200	Weak transcription	Lung	lung
7	chr1:62456200-62478600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:62458800-62521400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:62459000-62484000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:62459000-62516000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:62459000-62530600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:62459200-62487800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:62459200-62511200	Weak transcription	Gastric	stomach
14	chr1:62459200-62550000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:62459400-62479000	Weak transcription	Left Ventricle	heart
16	chr1:62459400-62484000	Weak transcription	Liver	Liver
17	chr1:62459400-62493800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:62459600-62478600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:62459600-62483600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:62459600-62494200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:62459800-62483600	Weak transcription	NHEK	skin
22	chr1:62460000-62478600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:62460000-62499600	Weak transcription	Fetal Intestine Large	intestine
24	chr1:62460000-62516400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:62460000-62544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:62460200-62487600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:62460200-62516000	Weak transcription	HMEC	breast
28	chr1:62461800-62479000	Weak transcription	Psoas Muscle	Psoas
29	chr1:62466400-62494200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:62469000-62533600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:62469800-62488000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr1:62473000-62488200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:62473800-62487000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:62474000-62479000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:62474200-62478600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:62474200-62518600	Weak transcription	Primary T cells from cord blood	blood
37	chr1:62476400-62478000	Enhancers	Fetal Kidney	kidney
38	chr1:62476600-62479000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:62477400-62479400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:62477600-62478600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:62477800-62478400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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