Variant report

Variant	rs17302038
Chromosome Location	chr15:59168802-59168803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59168045..59172125-chr15:59189388..59193241,4	K562	blood:
2	chr15:59167284..59169096-chr15:59170311..59173301,2	K562	blood:
3	chr15:59162668..59165557-chr15:59167625..59170277,3	K562	blood:
4	chr15:59167194..59169096-chr15:59170311..59172735,2	K562	blood:

Variant related genes	Relation type
ENSG00000137776	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10162821	0.93[ASN][1000 genomes]
rs10518991	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10518992	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1078001	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1092172	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11071400	0.93[ASN][1000 genomes]
rs11071401	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11630160	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11636723	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11637077	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11858989	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12148858	0.92[ASN][1000 genomes]
rs12438918	0.83[EUR][1000 genomes]
rs12438961	0.87[EUR][1000 genomes]
rs12440904	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12443436	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12595482	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12708456	0.92[ASN][1000 genomes]
rs12914723	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12916751	0.88[ASN][1000 genomes]
rs17302045	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs173214	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2013117	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2270664	0.94[ASN][1000 genomes]
rs2279719	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28473013	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28529423	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28538484	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28641638	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28709922	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3145	0.94[ASN][1000 genomes]
rs35477914	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs431414	0.91[EUR][1000 genomes]
rs4774315	0.93[ASN][1000 genomes]
rs4775101	0.89[ASN][1000 genomes]
rs592407	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs604057	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs637918	0.88[EUR][1000 genomes]
rs677933	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67851431	0.94[ASN][1000 genomes]
rs694918	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71407077	0.94[ASN][1000 genomes]
rs7173317	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8035628	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs813219	0.91[EUR][1000 genomes]
rs813220	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv1035640	chr15:59105360-59190930	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv904270	chr15:59140329-59238415	Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv94675	chr15:59164881-59174380	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59120000-59169000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr15:59147200-59169000	Weak transcription	K562	blood
3	chr15:59147600-59174600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr15:59148000-59169000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:59154600-59170200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr15:59157400-59170400	Weak transcription	Aorta	Aorta
7	chr15:59157600-59169000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr15:59157600-59169400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr15:59157600-59169400	Weak transcription	Brain Germinal Matrix	brain
10	chr15:59157600-59170200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr15:59157600-59170200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr15:59157600-59170200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr15:59157600-59170200	Weak transcription	Fetal Brain Female	brain
14	chr15:59157800-59169000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr15:59157800-59169400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:59157800-59169400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr15:59157800-59170000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:59157800-59170200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr15:59157800-59170200	Weak transcription	Primary T cells from cord blood	blood
20	chr15:59157800-59170400	Weak transcription	Primary B cells from cord blood	blood
21	chr15:59157800-59170400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr15:59157800-59172600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:59158000-59169000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr15:59158000-59169000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr15:59158000-59169400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr15:59158000-59170000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr15:59158000-59170000	Weak transcription	Liver	Liver
28	chr15:59158000-59170000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr15:59158000-59170200	Weak transcription	Left Ventricle	heart
30	chr15:59158000-59170400	Weak transcription	Fetal Lung	lung
31	chr15:59158000-59170400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr15:59158000-59170600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr15:59158000-59171800	Weak transcription	Right Ventricle	heart
34	chr15:59158200-59174600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr15:59158400-59169200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr15:59158600-59170000	Weak transcription	Ovary	ovary
37	chr15:59160000-59169800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:59160000-59170000	Weak transcription	Spleen	Spleen
39	chr15:59160400-59169400	Weak transcription	Fetal Stomach	stomach
40	chr15:59162200-59169400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr15:59162600-59170000	Weak transcription	Fetal Intestine Large	intestine
42	chr15:59163000-59169400	Weak transcription	Fetal Intestine Small	intestine
43	chr15:59163200-59170000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr15:59163400-59170400	Weak transcription	Brain Anterior Caudate	brain
45	chr15:59165200-59169200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:59165200-59169800	Weak transcription	Esophagus	oesophagus
47	chr15:59165200-59170200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr15:59165400-59170000	Weak transcription	Lung	lung
49	chr15:59165400-59170400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr15:59165800-59169400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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