Variant report

Variant	rs10880944
Chromosome Location	chr12:46645513-46645514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46604571..46607564-chr12:46643958..46646763,2	MCF-7	breast:
2	chr12:46644671..46647196-chr12:46660863..46663479,3	MCF-7	breast:
3	chr12:46596914..46598959-chr12:46645342..46648225,2	K562	blood:

Variant related genes	Relation type
ENSG00000111371	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1000405	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11504510	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12299843	0.96[EUR][1000 genomes]
rs12303214	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12580460	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1492893	0.89[EUR][1000 genomes]
rs1492897	0.90[EUR][1000 genomes]
rs2408495	0.86[EUR][1000 genomes]
rs3847985	0.88[EUR][1000 genomes]
rs4445700	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768109	0.88[EUR][1000 genomes]
rs4768692	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4768693	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56988021	0.96[EUR][1000 genomes]
rs7312682	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7957777	0.90[EUR][1000 genomes]
rs7959095	0.88[EUR][1000 genomes]
rs7960819	0.90[EUR][1000 genomes]
rs7967629	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7971312	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs973988	0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46592800-46654200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:46597600-46659600	Weak transcription	Colonic Mucosa	Colon
3	chr12:46615800-46653800	Weak transcription	NH-A	brain
4	chr12:46616000-46650400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:46616400-46653600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:46617000-46653000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:46618400-46653800	Weak transcription	HSMMtube	muscle
8	chr12:46622400-46649600	Weak transcription	Small Intestine	intestine
9	chr12:46622400-46650800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:46629400-46650600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:46629600-46650400	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:46632800-46650800	Weak transcription	Brain Germinal Matrix	brain
13	chr12:46633600-46647400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:46633600-46653800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:46635200-46653600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:46635600-46647400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:46635600-46654000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:46635600-46660000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:46635800-46646000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:46635800-46653800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:46636000-46647400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:46636800-46646000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:46637400-46646400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:46637600-46647800	Weak transcription	HepG2	liver
25	chr12:46638200-46649200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr12:46638600-46646400	Weak transcription	HMEC	breast
27	chr12:46638600-46647400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:46638800-46646000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:46638800-46646400	Weak transcription	K562	blood
30	chr12:46639600-46646400	Weak transcription	HSMM	muscle
31	chr12:46640200-46646000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr12:46640200-46646400	Weak transcription	Hela-S3	cervix
33	chr12:46640200-46650400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr12:46640200-46651200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:46640400-46646000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:46640400-46646600	Weak transcription	A549	lung
37	chr12:46640400-46646600	Weak transcription	HUVEC	blood vessel
38	chr12:46640400-46646600	Weak transcription	NHEK	skin
39	chr12:46640400-46647200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:46640400-46647600	Weak transcription	Fetal Intestine Large	intestine
41	chr12:46640400-46648600	Weak transcription	Fetal Heart	heart
42	chr12:46640400-46653600	Weak transcription	Psoas Muscle	Psoas
43	chr12:46640400-46660600	Weak transcription	Aorta	Aorta
44	chr12:46640600-46646600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:46640600-46647200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:46640600-46647400	Weak transcription	Placenta	Placenta
47	chr12:46640600-46649600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:46640600-46650200	Weak transcription	Thymus	Thymus
49	chr12:46640600-46650800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr12:46640600-46651400	Weak transcription	Primary hematopoietic stem cells	blood

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