Variant report

Variant	rs17123032
Chromosome Location	chr1:62524031-62524032
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	chr1:62517802..62520189-chr1:62523523..62525175,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12070254	0.81[YRI][hapmap]
rs12130050	1.00[JPT][hapmap]
rs12137401	1.00[JPT][hapmap]
rs17123054	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17123057	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17123061	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2499002	1.00[JPT][hapmap]
rs2666469	1.00[JPT][hapmap]
rs2760224	0.82[ASN][1000 genomes]
rs74076521	0.86[ASN][1000 genomes]
rs74076522	0.86[ASN][1000 genomes]
rs74076528	0.86[ASN][1000 genomes]
rs74076530	0.86[ASN][1000 genomes]
rs9436655	0.95[YRI][hapmap]

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	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
2	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
3	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

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62459000-62530600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr1:62459200-62550000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr1:62460000-62544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:62469000-62533600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:62484400-62562200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:62494600-62524400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:62494600-62524400	Weak transcription	Esophagus	oesophagus
8	chr1:62495200-62544800	Weak transcription	Liver	Liver
9	chr1:62504800-62531400	Weak transcription	Aorta	Aorta
10	chr1:62507400-62524600	Weak transcription	HepG2	liver
11	chr1:62508200-62628400	Weak transcription	Colonic Mucosa	Colon
12	chr1:62508800-62532000	Weak transcription	Fetal Stomach	stomach
13	chr1:62511400-62531600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:62511400-62531800	Weak transcription	NHEK	skin
15	chr1:62511600-62531200	Weak transcription	Lung	lung
16	chr1:62511800-62529600	Weak transcription	Right Atrium	heart
17	chr1:62512200-62524200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:62514000-62524400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:62515400-62552400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:62516800-62524400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:62518200-62531600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:62518200-62531800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:62518800-62531600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:62518800-62532000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:62519000-62530600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:62519000-62532000	Weak transcription	Fetal Intestine Large	intestine
27	chr1:62519000-62541600	Weak transcription	HMEC	breast
28	chr1:62519000-62550000	Weak transcription	Primary T cells from cord blood	blood
29	chr1:62519000-62550000	Weak transcription	Pancreas	Pancrea
30	chr1:62519000-62552000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:62520200-62530400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:62521800-62546200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:62522200-62527400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:62522600-62525600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr1:62522800-62524800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:62522800-62525200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:62522800-62525600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr1:62523000-62524600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:62523000-62525000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr1:62523200-62524400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:62523200-62524800	Enhancers	Fetal Heart	heart
42	chr1:62523200-62526000	Weak transcription	Fetal Intestine Small	intestine
43	chr1:62523200-62529800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:62523200-62532000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:62523200-62532200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:62523200-62533600	Weak transcription	Psoas Muscle	Psoas
47	chr1:62523400-62524400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
48	chr1:62523400-62524800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:62523400-62526400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:62523400-62531000	Weak transcription	Left Ventricle	heart

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