Variant report

Variant	rs11816013
Chromosome Location	chr10:52362851-52362852
allele	C/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: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	chr10:52335773..52337467-chr10:52361237..52363170,2	K562	blood:
2	chr10:52361423..52364078-chr10:52378639..52381362,2	K562	blood:
3	chr10:52356810..52366659-chr10:52378806..52385975,25	MCF-7	breast:
4	chr10:52358660..52367648-chr10:52378481..52386533,25	MCF-7	breast:
5	chr10:52342671..52345197-chr10:52362617..52364673,2	MCF-7	breast:
6	chr10:52342059..52344112-chr10:52362150..52364434,3	K562	blood:
7	chr10:52362637..52365036-chr10:52365893..52368621,2	K562	blood:
8	chr10:52361922..52364870-chr10:52374462..52376104,2	MCF-7	breast:
9	chr10:52361957..52364109-chr10:52372914..52375707,2	K562	blood:
10	chr10:52352956..52355914-chr10:52362254..52364953,3	K562	blood:
11	chr10:52352876..52355415-chr10:52360770..52364645,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226200	Chromatin interaction
ENSG00000198964	Chromatin interaction
ENSG00000230036	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11005459	1.00[AMR][1000 genomes]
rs11005981	1.00[AMR][1000 genomes]
rs11006229	1.00[YRI][hapmap]
rs11006233	1.00[YRI][hapmap]
rs11812196	1.00[AMR][1000 genomes]
rs11812413	1.00[AMR][1000 genomes]
rs11812958	1.00[AMR][1000 genomes]
rs11813457	1.00[AMR][1000 genomes]
rs11816953	1.00[AMR][1000 genomes]
rs11817206	1.00[AMR][1000 genomes]
rs12243876	1.00[AMR][1000 genomes]
rs12259376	1.00[AMR][1000 genomes]
rs12267585	1.00[AMR][1000 genomes]
rs12267811	1.00[AMR][1000 genomes]
rs16937319	1.00[YRI][hapmap]
rs17496500	1.00[YRI][hapmap]
rs3011801	1.00[YRI][hapmap]
rs7898659	1.00[AMR][1000 genomes]
rs7908477	1.00[AMR][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	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking 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 miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv469522	chr10:52276564-52447589	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv482564	chr10:52276564-52447589	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52336800-52363000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr10:52338000-52363800	Weak transcription	Fetal Kidney	kidney
3	chr10:52338000-52367000	Weak transcription	Aorta	Aorta
4	chr10:52341200-52373000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr10:52346600-52363400	Weak transcription	Adipose Nuclei	Adipose
6	chr10:52346600-52363800	Weak transcription	Spleen	Spleen
7	chr10:52348000-52363400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr10:52348400-52363000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr10:52349000-52363200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr10:52349200-52363200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr10:52349400-52363000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:52349400-52363000	Weak transcription	Lung	lung
13	chr10:52349600-52363600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr10:52349600-52364000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr10:52349600-52364800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr10:52349800-52363000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr10:52349800-52363800	Weak transcription	Primary B cells from cord blood	blood
18	chr10:52356600-52363800	Weak transcription	Fetal Brain Female	brain
19	chr10:52356800-52363400	Weak transcription	Colon Smooth Muscle	Colon
20	chr10:52358400-52367000	Enhancers	Fetal Lung	lung
21	chr10:52358800-52367800	Enhancers	Brain Hippocampus Middle	brain
22	chr10:52359400-52369200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr10:52359600-52363600	Enhancers	A549	lung
24	chr10:52359600-52363800	Enhancers	NHDF-Ad	bronchial
25	chr10:52359800-52363200	Weak transcription	Osteobl	bone
26	chr10:52359800-52363800	Enhancers	NHEK	skin
27	chr10:52360000-52366200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr10:52360200-52363000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:52360200-52375600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr10:52360400-52366000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr10:52360600-52363800	Weak transcription	Fetal Muscle Leg	muscle
32	chr10:52360600-52364000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr10:52360800-52363000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr10:52360800-52363800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr10:52360800-52363800	Weak transcription	Gastric	stomach
36	chr10:52361000-52363000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr10:52361000-52363000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr10:52361000-52363000	Weak transcription	Placenta	Placenta
39	chr10:52361000-52363000	Weak transcription	Fetal Thymus	thymus
40	chr10:52361000-52363000	Weak transcription	Psoas Muscle	Psoas
41	chr10:52361000-52363000	Weak transcription	Small Intestine	intestine
42	chr10:52361000-52363200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:52361000-52363200	Weak transcription	Thymus	Thymus
44	chr10:52361000-52363400	Weak transcription	NH-A	brain
45	chr10:52361000-52364600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr10:52361200-52363000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr10:52361200-52363400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr10:52361200-52363400	Weak transcription	HUVEC	blood vessel
49	chr10:52361200-52364800	Enhancers	Liver	Liver
50	chr10:52361400-52363400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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