Variant report

Variant	rs10846470
Chromosome Location	chr12:122708508-122708509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122698849..122704062-chr12:122705218..122711671,13	MCF-7	breast:
2	chr12:122707574..122711015-chr12:122711233..122714440,3	K562	blood:
3	chr12:122706789..122708655-chr12:122709178..122711069,2	K562	blood:
4	chr12:122500582..122502738-chr12:122708130..122710378,2	K562	blood:
5	chr12:122707649..122712350-chr12:122748538..122752681,8	K562	blood:
6	chr12:122686753..122691904-chr12:122708300..122712516,9	MCF-7	breast:
7	chr12:122685663..122693033-chr12:122702446..122708793,8	K562	blood:
8	chr12:122708152..122712753-chr12:122748620..122752557,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184047	Chromatin interaction
ENSG00000256861	Chromatin interaction
ENSG00000139719	Chromatin interaction
ENSG00000256546	Chromatin interaction
ENSG00000176383	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10270	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11060802	0.88[EUR][1000 genomes]
rs11061609	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12424872	0.94[EUR][1000 genomes]
rs12578953	0.81[EUR][1000 genomes]
rs12580084	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12810587	0.80[EUR][1000 genomes]
rs12815512	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12828234	0.82[EUR][1000 genomes]
rs12833379	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2277332	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34325222	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3782154	0.83[EUR][1000 genomes]
rs4567503	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4758650	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4758670	0.84[EUR][1000 genomes]
rs4758671	0.83[EUR][1000 genomes]
rs55741463	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59734396	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6488876	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7298397	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7957569	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7962385	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7963144	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7963565	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7964911	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7965868	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7970027	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7972228	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs872451	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs879132	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs907482	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs907483	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9668064	0.84[AMR][1000 genomes];0.86[EUR][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122689000-122709000	Weak transcription	Right Atrium	heart
2	chr12:122690800-122708800	Strong transcription	Fetal Brain Female	brain
3	chr12:122690800-122709400	Weak transcription	Stomach Mucosa	stomach
4	chr12:122691000-122708800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:122691000-122708800	Strong transcription	A549	lung
6	chr12:122691200-122708600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:122691200-122708800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:122691200-122709000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:122691200-122709200	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr12:122691400-122708800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr12:122691400-122709000	Strong transcription	Primary B cells from peripheral blood	blood
12	chr12:122691400-122709000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:122691400-122709000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:122691400-122709000	Strong transcription	Fetal Thymus	thymus
15	chr12:122691600-122709000	Strong transcription	Brain Hippocampus Middle	brain
16	chr12:122691600-122709000	Strong transcription	Fetal Muscle Leg	muscle
17	chr12:122691600-122709200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:122691800-122708600	Strong transcription	Rectal Smooth Muscle	rectum
19	chr12:122691800-122709000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:122691800-122709000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr12:122692200-122709200	Strong transcription	Fetal Muscle Trunk	muscle
22	chr12:122692400-122709200	Strong transcription	Fetal Lung	lung
23	chr12:122692600-122709000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:122695400-122709000	Strong transcription	Primary T cells from cord blood	blood
25	chr12:122697200-122709000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:122700600-122709200	Weak transcription	Small Intestine	intestine
27	chr12:122703000-122708600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:122703600-122708800	Strong transcription	NHEK	skin
29	chr12:122704600-122709000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:122704600-122709000	Strong transcription	Fetal Intestine Large	intestine
31	chr12:122705200-122708800	Strong transcription	Brain Cingulate Gyrus	brain
32	chr12:122705200-122709000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:122705800-122709000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
34	chr12:122705800-122709000	Weak transcription	Fetal Kidney	kidney
35	chr12:122705800-122709000	Strong transcription	Gastric	stomach
36	chr12:122705800-122709000	Strong transcription	HSMM	muscle
37	chr12:122706200-122709000	Weak transcription	HSMMtube	muscle
38	chr12:122706400-122709600	Weak transcription	Psoas Muscle	Psoas
39	chr12:122706600-122709000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:122706600-122709000	Weak transcription	NHDF-Ad	bronchial
41	chr12:122706800-122708600	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr12:122707200-122708800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:122707200-122709200	Genic enhancers	H1 Cell Line	embryonic stem cell
44	chr12:122707200-122709400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:122707400-122709000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:122707400-122709000	Weak transcription	Colonic Mucosa	Colon
47	chr12:122707400-122709000	Genic enhancers	Dnd41	blood
48	chr12:122707400-122709200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:122707400-122709200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr12:122707400-122709400	Genic enhancers	Primary T cells fromperipheralblood	blood

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