Variant report

Variant	rs11196814
Chromosome Location	chr10:116386304-116386305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116385913..116388731-chr10:116390266..116392434,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10444096	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11196804	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11196806	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196813	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196825	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11196826	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11196841	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11196845	0.81[ASN][1000 genomes]
rs11196854	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11196856	0.81[ASN][1000 genomes]
rs11196858	0.81[ASN][1000 genomes]
rs11196861	0.81[ASN][1000 genomes]
rs12146316	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12359503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12360417	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12763337	0.85[ASN][1000 genomes]
rs12768716	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12772864	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17719647	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34811081	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4237504	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4751620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4752039	0.98[ASN][1000 genomes]
rs4752040	0.98[ASN][1000 genomes]
rs4752044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4752047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4752071	0.87[ASN][1000 genomes]
rs955634	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][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	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116378800-116391200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:116382400-116387400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:116382400-116387600	Enhancers	HMEC	breast
4	chr10:116382400-116387800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:116382400-116388000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr10:116382600-116387200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:116382600-116387600	Enhancers	NHEK	skin
8	chr10:116383200-116391200	Weak transcription	Lung	lung
9	chr10:116383400-116388800	Weak transcription	Fetal Intestine Large	intestine
10	chr10:116383800-116386400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr10:116384000-116388800	Weak transcription	Psoas Muscle	Psoas
12	chr10:116384000-116391000	Weak transcription	Fetal Intestine Small	intestine
13	chr10:116384200-116386600	Weak transcription	Fetal Muscle Leg	muscle
14	chr10:116384200-116390800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr10:116384400-116388600	Weak transcription	Liver	Liver
16	chr10:116384400-116389200	Weak transcription	Esophagus	oesophagus
17	chr10:116384400-116389600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:116384400-116390200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr10:116384400-116390400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr10:116385000-116386400	Enhancers	Right Ventricle	heart
21	chr10:116385000-116390400	Weak transcription	HUVEC	blood vessel
22	chr10:116385200-116391000	Weak transcription	Stomach Mucosa	stomach
23	chr10:116385200-116391200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr10:116385400-116386400	Weak transcription	NH-A	brain
25	chr10:116385400-116386600	Weak transcription	HSMM	muscle
26	chr10:116385400-116386800	Weak transcription	HSMMtube	muscle
27	chr10:116385400-116387600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr10:116385400-116388800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr10:116385400-116389600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr10:116385400-116390800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr10:116385400-116391000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr10:116385600-116386800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr10:116385600-116389200	Weak transcription	HepG2	liver
34	chr10:116385600-116389400	Weak transcription	Hela-S3	cervix
35	chr10:116385600-116389600	Weak transcription	A549	lung
36	chr10:116385600-116390200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:116385600-116390800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr10:116385800-116386400	Enhancers	Left Ventricle	heart
39	chr10:116385800-116388800	Enhancers	Fetal Heart	heart
40	chr10:116386000-116386800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr10:116386000-116386800	Enhancers	Right Atrium	heart
42	chr10:116386000-116387000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr10:116386200-116386800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr10:116386200-116386800	Enhancers	Adipose Nuclei	Adipose
45	chr10:116386200-116386800	Enhancers	Pancreas	Pancrea
46	chr10:116386200-116387200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr10:116386200-116391000	Weak transcription	Gastric	stomach

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