Variant report

Variant	rs11100987
Chromosome Location	chr10:50322458-50322459
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50322283..50325786-chr10:50341748..50344745,3	K562	blood:

Variant related genes	Relation type
ENSG00000172538	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11100986	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12247475	0.95[ASN][1000 genomes]
rs12264188	0.95[ASN][1000 genomes]
rs17011899	1.00[EUR][1000 genomes]
rs41280539	1.00[EUR][1000 genomes]
rs4433499	0.95[ASN][1000 genomes]
rs4550152	0.95[ASN][1000 genomes]
rs4838369	0.95[ASN][1000 genomes]
rs4838448	0.95[ASN][1000 genomes]
rs4838450	0.95[ASN][1000 genomes]
rs59598256	0.95[ASN][1000 genomes]
rs61848422	0.95[ASN][1000 genomes]
rs61848450	0.95[ASN][1000 genomes]
rs6537498	0.95[ASN][1000 genomes]
rs7068519	0.85[ASN][1000 genomes]
rs72785050	0.82[AFR][1000 genomes]
rs7895377	0.95[ASN][1000 genomes]
rs7904486	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	esv2761593	chr10:50276812-50336129	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv1824894	chr10:50309905-50340304	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS 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	30 gene(s)	inside rSNPs	diseases
6	nsv550817	chr10:50319387-50328494	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50312600-50322800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:50315000-50322600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr10:50315400-50323000	Weak transcription	Pancreas	Pancrea
4	chr10:50315600-50323000	Weak transcription	Spleen	Spleen
5	chr10:50315800-50322600	Weak transcription	Liver	Liver
6	chr10:50318200-50322800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:50319000-50322800	Weak transcription	Esophagus	oesophagus
8	chr10:50319600-50322600	Weak transcription	Psoas Muscle	Psoas
9	chr10:50319800-50323000	Weak transcription	Lung	lung
10	chr10:50320800-50322600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr10:50321000-50323200	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr10:50321600-50322600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:50321600-50322600	Enhancers	Brain Angular Gyrus	brain
14	chr10:50321600-50322600	Flanking Active TSS	Osteobl	bone
15	chr10:50321600-50322800	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr10:50321600-50323000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr10:50321800-50324000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
18	chr10:50322000-50322600	Flanking Active TSS	Fetal Lung	lung
19	chr10:50322000-50322600	Enhancers	Rectal Smooth Muscle	rectum
20	chr10:50322000-50322600	Enhancers	K562	blood
21	chr10:50322000-50322600	Weak transcription	NH-A	brain
22	chr10:50322000-50322800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:50322000-50322800	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr10:50322000-50322800	Flanking Active TSS	NHDF-Ad	bronchial
25	chr10:50322000-50323000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
26	chr10:50322000-50323000	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr10:50322000-50323200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr10:50322000-50323200	Flanking Active TSS	NHLF	lung
29	chr10:50322000-50324000	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr10:50322200-50322600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr10:50322200-50322600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr10:50322200-50322600	Bivalent Enhancer	Fetal Intestine Large	intestine
33	chr10:50322200-50322600	Bivalent Enhancer	Fetal Thymus	thymus
34	chr10:50322200-50322800	Enhancers	Brain Anterior Caudate	brain
35	chr10:50322200-50322800	Weak transcription	Brain Substantia Nigra	brain
36	chr10:50322200-50322800	Active TSS	Fetal Muscle Trunk	muscle
37	chr10:50322200-50323000	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr10:50322200-50323800	Active TSS	Right Ventricle	heart
39	chr10:50322200-50324000	Active TSS	Aorta	Aorta
40	chr10:50322200-50324600	Active TSS	Brain Cingulate Gyrus	brain
41	chr10:50322400-50322600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr10:50322400-50322600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr10:50322400-50322600	Active TSS	HSMM	muscle
44	chr10:50322400-50322800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr10:50322400-50322800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:50322400-50322800	Active TSS	Colonic Mucosa	Colon
47	chr10:50322400-50322800	Flanking Active TSS	Fetal Stomach	stomach
48	chr10:50322400-50323800	Active TSS	Left Ventricle	heart
49	chr10:50322400-50323800	Active TSS	Ovary	ovary
50	chr10:50322400-50323800	Active TSS	Skeletal Muscle Male	skeletal muscle

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