Variant report

Variant	rs11831007
Chromosome Location	chr12:50095606-50095607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50094765..50096315-chr12:50134096..50136902,2	K562	blood:
2	chr12:50094601..50096725-chr12:50097954..50101430,3	MCF-7	breast:
3	chr12:50035243..50038149-chr12:50095334..50097229,2	MCF-7	breast:
4	chr12:50080608..50083488-chr12:50095334..50097821,2	MCF-7	breast:
5	chr12:50093739..50096760-chr12:50100388..50102925,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139644	Chromatin interaction
ENSG00000161791	Chromatin interaction
ENSG00000110844	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11832420	0.82[AFR][1000 genomes]
rs11833472	0.82[AFR][1000 genomes]
rs11834570	0.96[AFR][1000 genomes]
rs57905415	0.96[AFR][1000 genomes]
rs59628479	0.96[AFR][1000 genomes]
rs60263616	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50079000-50096200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:50091200-50096400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:50093000-50096400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:50093200-50095800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:50093200-50096400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:50093200-50096400	Weak transcription	Brain Angular Gyrus	brain
7	chr12:50093200-50096400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:50093200-50096600	Weak transcription	Ovary	ovary
9	chr12:50093200-50096800	Weak transcription	Small Intestine	intestine
10	chr12:50093200-50097600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:50093200-50098200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:50093200-50098600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:50093200-50098800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:50093200-50099200	Enhancers	Primary B cells from peripheral blood	blood
15	chr12:50093200-50099600	Weak transcription	Fetal Heart	heart
16	chr12:50093200-50100200	Weak transcription	Esophagus	oesophagus
17	chr12:50093400-50095800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:50093400-50095800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:50093400-50095800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:50093400-50095800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:50093400-50095800	Weak transcription	Brain Substantia Nigra	brain
22	chr12:50093400-50095800	Weak transcription	Fetal Lung	lung
23	chr12:50093400-50095800	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:50093400-50095800	Weak transcription	Fetal Thymus	thymus
25	chr12:50093400-50095800	Weak transcription	Left Ventricle	heart
26	chr12:50093400-50095800	Weak transcription	Spleen	Spleen
27	chr12:50093400-50096200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:50093400-50096400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:50093400-50096400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr12:50093400-50096400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:50093400-50096400	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:50093400-50096400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:50093400-50096400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:50093400-50096400	Weak transcription	NHDF-Ad	bronchial
35	chr12:50093400-50096600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:50093400-50096600	Weak transcription	Psoas Muscle	Psoas
37	chr12:50093400-50096600	Weak transcription	Right Atrium	heart
38	chr12:50093400-50096600	Weak transcription	Thymus	Thymus
39	chr12:50093400-50096800	Weak transcription	HMEC	breast
40	chr12:50093400-50097000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:50093400-50097000	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:50093400-50097000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:50093400-50097000	Weak transcription	K562	blood
44	chr12:50093400-50097200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:50093400-50097200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:50093400-50097400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:50093400-50098600	Weak transcription	Right Ventricle	heart
48	chr12:50093400-50098800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:50093400-50099200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:50093400-50099200	Weak transcription	Colonic Mucosa	Colon

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