Variant report

Variant	rs11070875
Chromosome Location	chr15:52332868-52332869
allele	C/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:52326795..52330431-chr15:52332202..52336988,5	K562	blood:
2	chr15:52310288..52313422-chr15:52332456..52335210,3	K562	blood:
3	chr15:52317535..52326388-chr15:52327451..52335331,11	K562	blood:
4	chr15:52331526..52333859-chr15:52340163..52342919,2	K562	blood:
5	chr15:52320626..52323301-chr15:52332648..52334173,2	MCF-7	breast:
6	chr15:52332465..52334999-chr15:52337431..52339850,2	K562	blood:
7	chr15:52323591..52325399-chr15:52331469..52333849,2	MCF-7	breast:
8	chr15:52308640..52315286-chr15:52329805..52332909,7	K562	blood:
9	chr15:52331117..52335082-chr15:52360597..52363150,3	K562	blood:
10	chr15:52303163..52304907-chr15:52331339..52333174,2	MCF-7	breast:
11	chr15:52308807..52313747-chr15:52329198..52338033,19	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259438	Chromatin interaction
ENSG00000259398	Chromatin interaction
ENSG00000069956	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10518674	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10851506	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10851507	0.82[EUR][1000 genomes]
rs11070876	0.98[ASN][1000 genomes]
rs11631522	0.89[ASN][1000 genomes]
rs11636443	0.90[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs12439565	0.81[EUR][1000 genomes]
rs12914884	0.94[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2017974	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2414127	0.86[JPT][hapmap]
rs2414128	0.86[JPT][hapmap]
rs2959283	0.89[YRI][hapmap];0.89[EUR][1000 genomes]
rs36046047	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4627278	1.00[CEU][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes]
rs4775999	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs57550676	0.81[EUR][1000 genomes]
rs60315520	0.82[ASN][1000 genomes]
rs7162115	0.86[ASN][1000 genomes]
rs7163418	0.85[EUR][1000 genomes]
rs7166425	0.92[EUR][1000 genomes]
rs7176761	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7177891	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7179561	0.95[CHB][hapmap];0.93[YRI][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72732969	0.88[EUR][1000 genomes]
rs72732970	0.89[EUR][1000 genomes]
rs8034167	0.80[JPT][hapmap]
rs8035945	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047260	chr15:52257100-52337418	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv1050664	chr15:52265723-52342101	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv530681	chr15:52297253-52390470	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv984198	chr15:52319726-52481137	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52312800-52345400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:52314400-52359800	Weak transcription	Fetal Brain Male	brain
3	chr15:52325800-52334200	Weak transcription	Dnd41	blood
4	chr15:52325800-52342200	Weak transcription	HUVEC	blood vessel
5	chr15:52326800-52342800	Weak transcription	Fetal Brain Female	brain
6	chr15:52327000-52337200	Weak transcription	Primary B cells from cord blood	blood
7	chr15:52327000-52340600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:52327600-52340200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr15:52328000-52333800	Enhancers	K562	blood
10	chr15:52328200-52333200	Enhancers	Liver	Liver
11	chr15:52328200-52334200	Enhancers	Brain Cingulate Gyrus	brain
12	chr15:52329200-52333200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr15:52329400-52333000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:52329400-52333000	Enhancers	Right Atrium	heart
15	chr15:52329600-52333000	Enhancers	Left Ventricle	heart
16	chr15:52329800-52333000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:52329800-52333800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:52329800-52334400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr15:52329800-52334800	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr15:52330000-52333200	Enhancers	A549	lung
21	chr15:52330000-52335400	Enhancers	HepG2	liver
22	chr15:52330200-52333200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr15:52330200-52333400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:52330400-52333000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr15:52330400-52333200	Enhancers	Psoas Muscle	Psoas
26	chr15:52330600-52333000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr15:52330600-52333000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:52330600-52333200	Enhancers	Stomach Mucosa	stomach
29	chr15:52330600-52334000	Enhancers	Small Intestine	intestine
30	chr15:52330600-52334200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr15:52330600-52335400	Enhancers	Pancreas	Pancrea
32	chr15:52331000-52333200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr15:52331000-52335400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:52331200-52333000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:52331200-52333000	Enhancers	Fetal Intestine Small	intestine
36	chr15:52331200-52333200	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr15:52331200-52334600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr15:52331200-52334600	Enhancers	Fetal Kidney	kidney
39	chr15:52331200-52334800	Genic enhancers	NHEK	skin
40	chr15:52331200-52335000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:52331400-52333000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr15:52331400-52333000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr15:52331400-52333000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr15:52331400-52333000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr15:52331400-52333000	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr15:52331400-52333000	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr15:52331400-52333000	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr15:52331400-52333200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr15:52331400-52333200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr15:52331400-52333200	Enhancers	Fetal Stomach	stomach

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