Variant report

Variant	rs12244511
Chromosome Location	chr10:5023641-5023642
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:4891535..4892324-chr10:5023515..5024836,4	MCF-7	breast:
2	chr10:4867291..4868823-chr10:5022590..5025405,2	K562	blood:
3	chr10:5022739..5024559-chr10:5026616..5029182,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKR1C3-4	chr10:5022258-5025472	NONHSAT011123

Variant related genes	Relation type
ENSG00000165568	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11252843	1.00[EUR][1000 genomes]
rs11252852	1.00[EUR][1000 genomes]
rs11814708	1.00[EUR][1000 genomes]
rs12248094	1.00[EUR][1000 genomes]
rs12254797	1.00[EUR][1000 genomes]
rs12265755	1.00[EUR][1000 genomes]
rs28805383	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2924282	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription 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	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv466713	chr10:4901798-5319679	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv549881	chr10:4901798-5319679	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv1050246	chr10:4927428-5211318	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv549882	chr10:4943518-5203864	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv2763913	chr10:4961021-5321407	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv894794	chr10:4972761-5121745	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	14 gene(s)	inside rSNPs	diseases
14	nsv430122	chr10:4986040-5134511	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv825221	chr10:4999349-5046239	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	nsv1039386	chr10:5008383-5348491	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4998200-5023800	Weak transcription	Gastric	stomach
2	chr10:5004800-5023800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr10:5005800-5027400	Weak transcription	Fetal Stomach	stomach
4	chr10:5005800-5045800	Weak transcription	HSMMtube	muscle
5	chr10:5006000-5023800	Weak transcription	Esophagus	oesophagus
6	chr10:5006000-5023800	Weak transcription	Left Ventricle	heart
7	chr10:5006000-5024000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr10:5007200-5023800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr10:5007400-5023800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:5007400-5023800	Weak transcription	Right Ventricle	heart
11	chr10:5007400-5024200	Weak transcription	NHEK	skin
12	chr10:5008200-5044000	Weak transcription	Fetal Brain Male	brain
13	chr10:5009400-5027200	Weak transcription	Spleen	Spleen
14	chr10:5009600-5024000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr10:5009600-5027000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr10:5010200-5024000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr10:5010800-5023800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:5011600-5023800	Weak transcription	Lung	lung
19	chr10:5011600-5044200	Weak transcription	Fetal Brain Female	brain
20	chr10:5011800-5023800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr10:5011800-5024200	Weak transcription	Aorta	Aorta
22	chr10:5011800-5027000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr10:5011800-5043800	Weak transcription	Psoas Muscle	Psoas
24	chr10:5012000-5024000	Weak transcription	Osteobl	bone
25	chr10:5012000-5027000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:5012200-5023800	Weak transcription	Ovary	ovary
27	chr10:5013200-5023800	Weak transcription	Pancreas	Pancrea
28	chr10:5016000-5024000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr10:5017200-5023800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr10:5019000-5023800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr10:5019400-5044600	Weak transcription	Brain Germinal Matrix	brain
32	chr10:5019600-5023800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr10:5021400-5023800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr10:5021600-5032600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr10:5021800-5023800	Weak transcription	Adipose Nuclei	Adipose
36	chr10:5021800-5024000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr10:5021800-5044400	Weak transcription	NHDF-Ad	bronchial
38	chr10:5022600-5023800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr10:5023000-5023800	Genic enhancers	A549	lung
40	chr10:5023000-5023800	Enhancers	K562	blood
41	chr10:5023200-5023800	Enhancers	Fetal Heart	heart
42	chr10:5023200-5024000	Strong transcription	Liver	Liver
43	chr10:5023200-5024000	Enhancers	Stomach Mucosa	stomach
44	chr10:5023200-5024800	Enhancers	Fetal Intestine Large	intestine
45	chr10:5023600-5023800	Enhancers	Hela-S3	cervix
46	chr10:5023600-5024400	Enhancers	HepG2	liver
47	chr10:5023600-5024800	Enhancers	Fetal Intestine Small	intestine
48	chr10:5023600-5025400	Enhancers	Fetal Muscle Leg	muscle

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