Variant report

Variant	rs11006116
Chromosome Location	chr10:52314413-52314414
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:52312834..52315276-chr10:52353928..52355843,2	K562	blood:
2	chr10:52313061..52318898-chr10:52381919..52385253,10	MCF-7	breast:
3	chr10:52313414..52314977-chr10:52382668..52385020,2	MCF-7	breast:
4	chr10:52313474..52316249-chr10:52319945..52321727,3	K562	blood:
5	chr10:52311229..52315083-chr10:52335257..52337670,4	K562	blood:
6	chr10:52308481..52311283-chr10:52312051..52314747,2	MCF-7	breast:
7	chr10:52310207..52315512-chr10:52382852..52386021,4	K562	blood:
8	chr10:52303296..52304994-chr10:52312451..52315128,2	MCF-7	breast:
9	chr10:52313546..52319488-chr10:52380502..52386285,13	K562	blood:
10	chr10:52310270..52314455-chr10:52315610..52319835,4	MCF-7	breast:
11	chr10:52313555..52316104-chr10:52337795..52339466,2	K562	blood:
12	chr10:52310656..52316983-chr10:52334408..52339466,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226200	Chromatin interaction
ENSG00000198964	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11006578	1.00[AMR][1000 genomes]
rs12244525	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12263950	0.88[YRI][hapmap];0.82[AFR][1000 genomes];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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52280200-52328000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:52299600-52320600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:52300800-52322800	Weak transcription	Primary B cells from cord blood	blood
4	chr10:52301600-52327200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:52305400-52329600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr10:52306000-52316000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:52306000-52319000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr10:52306000-52321400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr10:52306000-52322000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr10:52306000-52331800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr10:52308000-52337200	Weak transcription	Primary T cells from cord blood	blood
12	chr10:52309600-52316400	Enhancers	Brain Substantia Nigra	brain
13	chr10:52310400-52314800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr10:52310400-52316000	Weak transcription	Lung	lung
15	chr10:52310400-52323800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr10:52310600-52314600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr10:52310600-52314600	Weak transcription	Fetal Intestine Large	intestine
18	chr10:52310600-52316000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:52310600-52323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr10:52310600-52327200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:52311000-52314600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr10:52311000-52315200	Weak transcription	Spleen	Spleen
23	chr10:52311000-52323600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr10:52311000-52335800	Weak transcription	Esophagus	oesophagus
25	chr10:52311600-52316800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr10:52311800-52315000	Enhancers	Fetal Heart	heart
27	chr10:52312000-52316600	Enhancers	Brain Angular Gyrus	brain
28	chr10:52312000-52317000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr10:52312400-52315000	Enhancers	Aorta	Aorta
30	chr10:52312600-52315000	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr10:52312600-52321000	Weak transcription	NH-A	brain
32	chr10:52312800-52314600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:52312800-52314600	Weak transcription	Adipose Nuclei	Adipose
34	chr10:52312800-52314600	Weak transcription	Fetal Lung	lung
35	chr10:52312800-52314600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr10:52312800-52314600	Weak transcription	Small Intestine	intestine
37	chr10:52312800-52314800	Weak transcription	Liver	Liver
38	chr10:52312800-52314800	Weak transcription	HSMMtube	muscle
39	chr10:52312800-52315800	Weak transcription	Gastric	stomach
40	chr10:52312800-52316000	Enhancers	Brain Cingulate Gyrus	brain
41	chr10:52312800-52319800	Enhancers	NHLF	lung
42	chr10:52312800-52335800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:52312800-52335800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr10:52313000-52314600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr10:52313000-52314600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr10:52313000-52314600	Weak transcription	Stomach Mucosa	stomach
47	chr10:52313000-52314600	Weak transcription	Osteobl	bone
48	chr10:52313000-52314800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr10:52313000-52315400	Weak transcription	HSMM	muscle
50	chr10:52313000-52316200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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