Variant report

Variant	rs12313763
Chromosome Location	chr12:25362854-25362855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:25362118..25365222-chr12:25537571..25540342,3	MCF-7	breast:
2	chr12:25360345..25363187-chr12:25402530..25405370,3	MCF-7	breast:
3	chr12:25350292..25353485-chr12:25360688..25363918,3	K562	blood:
4	chr12:25362035..25364781-chr12:25538838..25541339,3	K562	blood:
5	chr12:25361412..25364076-chr12:25538514..25540823,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133703	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10400492	1.00[EUR][1000 genomes]
rs11047859	1.00[EUR][1000 genomes]
rs11047869	1.00[EUR][1000 genomes]
rs11047898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11829456	1.00[EUR][1000 genomes]
rs11833781	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11835872	1.00[EUR][1000 genomes]
rs12307064	1.00[EUR][1000 genomes]
rs34164267	1.00[EUR][1000 genomes]
rs61759608	1.00[EUR][1000 genomes]
rs61759613	1.00[EUR][1000 genomes]
rs61759631	1.00[EUR][1000 genomes]
rs61761086	1.00[EUR][1000 genomes]
rs61761090	1.00[EUR][1000 genomes]
rs61761092	1.00[EUR][1000 genomes]
rs61761151	1.00[EUR][1000 genomes]
rs61762363	1.00[EUR][1000 genomes]
rs61764371	1.00[EUR][1000 genomes]
rs61764377	1.00[EUR][1000 genomes]
rs7304274	1.00[EUR][1000 genomes]
rs7953861	1.00[EUR][1000 genomes]
rs7972282	1.00[EUR][1000 genomes]
rs7978771	1.00[EUR][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	nsv898922	chr12:25274593-25408047	Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1048631	chr12:25353517-25378661	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv898923	chr12:25357680-25397282	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv898924	chr12:25357680-25398972	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv557798	chr12:25359841-25397282	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25348600-25402200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:25348600-25403200	Weak transcription	Spleen	Spleen
3	chr12:25349000-25369200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:25349000-25372800	Weak transcription	Aorta	Aorta
5	chr12:25349000-25374200	Weak transcription	Lung	lung
6	chr12:25349000-25386000	Weak transcription	Left Ventricle	heart
7	chr12:25349000-25402400	Weak transcription	Right Ventricle	heart
8	chr12:25349200-25363200	Weak transcription	Brain Substantia Nigra	brain
9	chr12:25349200-25363400	Weak transcription	Stomach Mucosa	stomach
10	chr12:25349400-25367400	Weak transcription	Fetal Stomach	stomach
11	chr12:25349400-25388200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:25349400-25388600	Weak transcription	NHLF	lung
13	chr12:25349400-25393800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:25349400-25396000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:25349400-25401800	Weak transcription	Fetal Brain Male	brain
16	chr12:25349400-25402600	Weak transcription	Brain Germinal Matrix	brain
17	chr12:25349600-25364600	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:25349600-25389000	Weak transcription	Brain Angular Gyrus	brain
19	chr12:25349600-25394600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:25349600-25402600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:25349600-25402600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:25349600-25402600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:25349600-25402600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:25349800-25379200	Weak transcription	Brain Anterior Caudate	brain
25	chr12:25349800-25386200	Weak transcription	Hela-S3	cervix
26	chr12:25349800-25390200	Weak transcription	K562	blood
27	chr12:25350000-25372600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:25350000-25402800	Weak transcription	Ovary	ovary
29	chr12:25353200-25378800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:25354000-25402400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:25354400-25368200	Weak transcription	HUVEC	blood vessel
32	chr12:25354400-25369000	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:25354400-25378400	Weak transcription	HMEC	breast
34	chr12:25354400-25402200	Weak transcription	Pancreas	Pancrea
35	chr12:25354600-25389000	Weak transcription	HSMMtube	muscle
36	chr12:25355400-25366000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:25355400-25370600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr12:25355600-25363400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:25355800-25363400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:25355800-25363400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:25355800-25366000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:25355800-25396000	Weak transcription	Small Intestine	intestine
43	chr12:25356000-25363400	Strong transcription	Dnd41	blood
44	chr12:25356000-25363600	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:25356000-25363800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr12:25356200-25363200	Strong transcription	Primary B cells from cord blood	blood
47	chr12:25356200-25363200	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr12:25356200-25364600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:25356200-25366000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:25356200-25372800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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