Variant report

Variant	rs4132370
Chromosome Location	chr12:49070469-49070470
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	chr12:49069459..49071260-chr12:49074212..49076184,2	MCF-7	breast:
2	chr12:49065590..49067167-chr12:49068340..49070785,2	K562	blood:

Variant related genes	Relation type
ENSG00000139620	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10875851	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168620	1.00[ASN][1000 genomes]
rs11168659	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168660	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168661	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168664	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168667	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168680	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168690	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168691	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168692	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168693	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168694	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168695	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168699	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168700	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168701	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168708	1.00[ASN][1000 genomes]
rs11168715	1.00[ASN][1000 genomes]
rs11168717	1.00[ASN][1000 genomes]
rs11168718	1.00[ASN][1000 genomes]
rs11168719	1.00[ASN][1000 genomes]
rs11168722	1.00[ASN][1000 genomes]
rs11168727	1.00[ASN][1000 genomes]
rs11168781	1.00[ASN][1000 genomes]
rs11832160	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837643	1.00[ASN][1000 genomes]
rs12366919	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369279	1.00[ASN][1000 genomes]
rs17123362	1.00[ASN][1000 genomes]
rs17834622	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1895994	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409084	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3013	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4405363	1.00[ASN][1000 genomes]
rs55644947	1.00[ASN][1000 genomes]
rs56182935	1.00[ASN][1000 genomes]
rs61942011	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61942012	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942013	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942014	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942015	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942016	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942018	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942047	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942048	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942049	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942051	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942052	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61942053	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61942058	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942059	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943193	1.00[ASN][1000 genomes]
rs61943194	1.00[ASN][1000 genomes]
rs6580694	0.92[CEU][hapmap];1.00[ASN][1000 genomes]
rs7138342	1.00[ASN][1000 genomes]
rs7294389	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295027	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295138	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296987	1.00[ASN][1000 genomes]
rs7303113	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105786	1.00[ASN][1000 genomes]
rs74088163	1.00[ASN][1000 genomes]
rs7486636	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964801	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966343	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967175	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967542	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973954	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975102	0.92[CEU][hapmap];1.00[ASN][1000 genomes]
rs7977935	1.00[ASN][1000 genomes]
rs7979508	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953673	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
2	nsv438209	chr12:49058814-49071245	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	nsv519053	chr12:49065727-49079470	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49036800-49072000	Strong transcription	Liver	Liver
2	chr12:49037800-49072400	Strong transcription	Placenta	Placenta
3	chr12:49038200-49070800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr12:49038800-49071800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:49039000-49072200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:49039400-49071800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:49039800-49071000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:49039800-49071000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr12:49040000-49072600	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:49040400-49072800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:49041000-49071800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:49041800-49070800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:49041800-49071000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:49041800-49072400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:49041800-49073800	Strong transcription	Fetal Intestine Large	intestine
16	chr12:49042400-49072800	Strong transcription	Fetal Muscle Leg	muscle
17	chr12:49044200-49071000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:49044200-49072400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:49044200-49072800	Strong transcription	Fetal Thymus	thymus
20	chr12:49044400-49071000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:49044400-49071400	Strong transcription	Thymus	Thymus
22	chr12:49044400-49072400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:49044600-49072400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr12:49044800-49071200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:49045000-49071600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:49045400-49072600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr12:49045600-49071800	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr12:49045600-49072400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:49045600-49073400	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr12:49046200-49072600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:49046400-49071000	Strong transcription	HUVEC	blood vessel
32	chr12:49057200-49072400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:49057800-49071400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:49057800-49072800	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:49058400-49074000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr12:49058600-49071000	Strong transcription	Adipose Nuclei	Adipose
37	chr12:49058600-49071000	Strong transcription	Hela-S3	cervix
38	chr12:49061600-49071800	Weak transcription	Small Intestine	intestine
39	chr12:49062600-49071000	Weak transcription	Fetal Brain Male	brain
40	chr12:49063400-49071000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr12:49065600-49072400	Weak transcription	Stomach Mucosa	stomach
42	chr12:49065800-49071000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:49065800-49071000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:49065800-49071000	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:49065800-49071000	Weak transcription	Fetal Kidney	kidney
46	chr12:49065800-49071200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:49065800-49071600	Strong transcription	Osteobl	bone
48	chr12:49065800-49071800	Weak transcription	Brain Substantia Nigra	brain
49	chr12:49065800-49072000	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:49065800-49072400	Weak transcription	HSMMtube	muscle

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