Variant report

Variant	rs7312037
Chromosome Location	chr12:49964176-49964177
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49960207..49964959-chr12:50014167..50018580,9	MCF-7	breast:
2	chr12:49962867..49964959-chr12:49972007..49974153,2	K562	blood:
3	chr12:49963030..49965233-chr12:50019222..50021046,2	K562	blood:
4	chr12:49959993..49964620-chr12:49965374..49976382,20	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110844	Chromatin interaction
ENSG00000257964	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11831673	1.00[YRI][hapmap]
rs11831877	1.00[AFR][1000 genomes]
rs11832420	1.00[YRI][hapmap]
rs11832727	0.94[AFR][1000 genomes]
rs11834570	1.00[YRI][hapmap]
rs11835085	1.00[YRI][hapmap]
rs11837399	0.94[AFR][1000 genomes]
rs11837408	0.94[AFR][1000 genomes]
rs11837637	0.91[AFR][1000 genomes]
rs3861577	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs57489906	0.81[AFR][1000 genomes]
rs58072420	0.88[AFR][1000 genomes]
rs59576871	0.86[AFR][1000 genomes]
rs59597892	0.94[AFR][1000 genomes]
rs59957222	0.91[AFR][1000 genomes]
rs60117004	1.00[AFR][1000 genomes]
rs7131756	1.00[AFR][1000 genomes]
rs7134329	0.94[AFR][1000 genomes]
rs7307183	0.94[AFR][1000 genomes]
rs7310069	0.81[AFR][1000 genomes]
rs7313183	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7313590	1.00[AFR][1000 genomes]
rs7960185	1.00[YRI][hapmap]
rs7973011	1.00[YRI][hapmap]

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	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49962600-49970200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:49962600-49971000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:49962800-49970800	Weak transcription	Lung	lung
4	chr12:49962800-49974200	Weak transcription	Esophagus	oesophagus
5	chr12:49962800-49974200	Weak transcription	Placenta	Placenta
6	chr12:49963000-49964200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:49963000-49964200	Weak transcription	Right Ventricle	heart
8	chr12:49963000-49964200	Weak transcription	Spleen	Spleen
9	chr12:49963000-49964800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:49963000-49964800	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:49963000-49965000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:49963000-49965000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:49963000-49965200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr12:49963000-49965400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:49963000-49965800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:49963000-49967000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:49963000-49967600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:49963000-49967800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:49963000-49968600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:49963000-49969600	Weak transcription	NH-A	brain
21	chr12:49963000-49970600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:49963000-49971600	Weak transcription	Right Atrium	heart
23	chr12:49963000-49974000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:49963000-49974000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr12:49963000-49974000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:49963000-49974000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr12:49963000-49974000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:49963000-49974000	Weak transcription	Brain Angular Gyrus	brain
29	chr12:49963000-49974000	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:49963000-49974000	Weak transcription	Brain Substantia Nigra	brain
31	chr12:49963000-49974000	Weak transcription	HSMMtube	muscle
32	chr12:49963000-49974200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:49963000-49974200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:49963000-49974200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:49963000-49974200	Weak transcription	Fetal Kidney	kidney
36	chr12:49963000-49974200	Weak transcription	Fetal Lung	lung
37	chr12:49963000-49974200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:49963000-49979200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr12:49963000-49979200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr12:49963000-49982200	Weak transcription	NHLF	lung
41	chr12:49963000-49984800	Weak transcription	Small Intestine	intestine
42	chr12:49963000-50003200	Weak transcription	Aorta	Aorta
43	chr12:49963200-49964200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:49963200-49964200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr12:49963200-49964200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:49963200-49964400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr12:49963200-49964400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr12:49963200-49964400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:49963200-49964600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:49963200-49964800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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