Variant report

Variant	rs12248701
Chromosome Location	chr10:22041564-22041565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:22032512..22034236-chr10:22040001..22042457,2	MCF-7	breast:
2	chr10:21783544..21786537-chr10:22040150..22042469,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222071	Chromatin interaction
ENSG00000204682	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11012747	1.00[AFR][1000 genomes]
rs11012757	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11498367	1.00[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs12246378	1.00[YRI][hapmap]
rs12267289	1.00[AFR][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	nsv1052464	chr10:21856531-22220087	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv1802317	chr10:21866085-22288132	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active 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
3	nsv894947	chr10:21869609-22117913	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv550203	chr10:21916468-22062729	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv540513	chr10:22031022-22065456	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22023000-22046200	Weak transcription	Right Atrium	heart
2	chr10:22028200-22056600	Weak transcription	Hela-S3	cervix
3	chr10:22029400-22053000	Weak transcription	Colonic Mucosa	Colon
4	chr10:22032800-22042600	Weak transcription	HepG2	liver
5	chr10:22033800-22043600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr10:22033800-22044600	Weak transcription	HSMMtube	muscle
7	chr10:22033800-22046600	Weak transcription	Brain Hippocampus Middle	brain
8	chr10:22033800-22047400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr10:22033800-22047400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr10:22033800-22047600	Weak transcription	Colon Smooth Muscle	Colon
11	chr10:22034000-22043000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr10:22034000-22043400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr10:22034000-22043400	Weak transcription	Adipose Nuclei	Adipose
14	chr10:22034000-22044600	Weak transcription	Osteobl	bone
15	chr10:22034000-22045600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr10:22034000-22045600	Weak transcription	Ovary	ovary
17	chr10:22034000-22046400	Weak transcription	Fetal Brain Female	brain
18	chr10:22034000-22046800	Weak transcription	Brain Substantia Nigra	brain
19	chr10:22034000-22046800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr10:22034000-22047600	Weak transcription	Small Intestine	intestine
21	chr10:22034000-22047800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr10:22034000-22049800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr10:22034000-22052600	Weak transcription	Primary B cells from cord blood	blood
24	chr10:22034200-22047400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr10:22034400-22041600	Weak transcription	Spleen	Spleen
26	chr10:22034400-22041800	Weak transcription	HSMM	muscle
27	chr10:22034400-22042000	Weak transcription	Pancreas	Pancrea
28	chr10:22034400-22042200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr10:22034400-22042800	Weak transcription	Fetal Lung	lung
30	chr10:22034400-22043000	Weak transcription	Lung	lung
31	chr10:22034400-22043200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:22034400-22043200	Weak transcription	Fetal Heart	heart
33	chr10:22034400-22043400	Weak transcription	Gastric	stomach
34	chr10:22034400-22043400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr10:22034400-22043600	Weak transcription	Liver	Liver
36	chr10:22034400-22044400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr10:22034400-22045800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr10:22034400-22046200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:22034400-22046200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr10:22034400-22046200	Weak transcription	NHLF	lung
41	chr10:22034400-22047200	Weak transcription	Aorta	Aorta
42	chr10:22034400-22047600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr10:22034400-22047600	Weak transcription	Brain Angular Gyrus	brain
44	chr10:22034400-22047600	Weak transcription	Left Ventricle	heart
45	chr10:22034400-22049200	Weak transcription	Brain Germinal Matrix	brain
46	chr10:22034400-22049200	Weak transcription	A549	lung
47	chr10:22034400-22049800	Weak transcription	Brain Anterior Caudate	brain
48	chr10:22034400-22051000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr10:22034400-22054200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr10:22034400-22057600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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