Variant report

Variant	rs10844373
Chromosome Location	chr12:9816299-9816300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:9810242..9813132-chr12:9813704..9817912,3	MCF-7	breast:
2	chr12:9798361..9803416-chr12:9813880..9817033,6	MCF-7	breast:
3	chr12:9799537..9802341-chr12:9814175..9817797,3	K562	blood:
4	chr12:9815292..9817127-chr12:9818651..9820715,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256442	Chromatin interaction
ENSG00000256594	Chromatin interaction
ENSG00000257027	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10047657	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10743806	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10771987	0.94[ASN][1000 genomes]
rs10772001	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772010	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844269	0.83[EUR][1000 genomes]
rs10844325	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844372	0.81[AFR][1000 genomes]
rs1560007	0.92[ASN][1000 genomes]
rs17805558	0.92[ASN][1000 genomes]
rs1863873	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863874	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2401386	0.83[EUR][1000 genomes]
rs34383380	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764023	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3764024	0.97[ASN][1000 genomes]
rs7131784	0.94[ASN][1000 genomes]
rs7132715	0.82[EUR][1000 genomes]
rs7299076	0.92[ASN][1000 genomes]
rs7313927	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7316121	0.94[ASN][1000 genomes]
rs7959272	0.92[ASN][1000 genomes]
rs7975716	0.91[ASN][1000 genomes]
rs969367	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	esv1821732	chr12:9560087-9830668	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1823760	chr12:9560087-9830668	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv428271	chr12:9560087-9830668	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917178	chr12:9637315-9820153	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9802400-9849800	Weak transcription	Pancreas	Pancrea
2	chr12:9803000-9816400	Weak transcription	Brain Germinal Matrix	brain
3	chr12:9803000-9816800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:9803000-9819800	Weak transcription	Fetal Brain Female	brain
5	chr12:9803000-9820200	Weak transcription	Brain Substantia Nigra	brain
6	chr12:9803000-9822200	Weak transcription	Small Intestine	intestine
7	chr12:9803600-9826200	Weak transcription	Esophagus	oesophagus
8	chr12:9804400-9820400	Weak transcription	HUVEC	blood vessel
9	chr12:9804600-9820000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:9804600-9820000	Weak transcription	HMEC	breast
11	chr12:9804600-9820200	Weak transcription	NHEK	skin
12	chr12:9805600-9819400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:9805800-9818200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:9806000-9818000	Strong transcription	Fetal Muscle Leg	muscle
15	chr12:9806200-9818200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:9806200-9818200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:9806200-9819000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr12:9806200-9821600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr12:9806400-9817200	Strong transcription	Dnd41	blood
20	chr12:9806600-9818000	Strong transcription	Placenta	Placenta
21	chr12:9806600-9818600	Strong transcription	Adipose Nuclei	Adipose
22	chr12:9806600-9818600	Strong transcription	Fetal Lung	lung
23	chr12:9807000-9818000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:9807000-9818200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr12:9807000-9826000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:9807600-9847200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:9808000-9817800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:9808000-9820000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:9808200-9818200	Genic enhancers	Primary T cells from cord blood	blood
30	chr12:9808400-9818200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:9808600-9819200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
32	chr12:9808800-9819200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr12:9809000-9816800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:9810600-9817800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:9810800-9817000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:9811200-9818000	Strong transcription	Left Ventricle	heart
37	chr12:9812000-9818200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr12:9812000-9820400	Weak transcription	NHLF	lung
39	chr12:9812200-9817600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:9812800-9825800	Weak transcription	Right Ventricle	heart
41	chr12:9813000-9816400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:9813000-9825800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:9813000-9826200	Weak transcription	Brain Anterior Caudate	brain
44	chr12:9813000-9826200	Weak transcription	Gastric	stomach
45	chr12:9813400-9818000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:9813600-9818600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:9813800-9826000	Weak transcription	NHDF-Ad	bronchial
48	chr12:9814000-9818000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:9814000-9818800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:9814600-9817200	Strong transcription	Aorta	Aorta

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