Variant report

Variant	rs56110646
Chromosome Location	chr12:32794615-32794616
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32630395..32632339-chr12:32793726..32796613,2	MCF-7	breast:
2	chr12:32792047..32794704-chr12:32795813..32797646,2	K562	blood:

Variant related genes	Relation type
ENSG00000253063	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1004969	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052111	1.00[ASN][1000 genomes]
rs11052112	1.00[ASN][1000 genomes]
rs11052113	1.00[ASN][1000 genomes]
rs11052115	1.00[ASN][1000 genomes]
rs11052116	1.00[ASN][1000 genomes]
rs11052119	1.00[ASN][1000 genomes]
rs12299270	1.00[ASN][1000 genomes]
rs12299609	1.00[ASN][1000 genomes]
rs12299979	1.00[ASN][1000 genomes]
rs12300443	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300477	1.00[ASN][1000 genomes]
rs12300666	1.00[ASN][1000 genomes]
rs12300734	1.00[ASN][1000 genomes]
rs12307670	1.00[ASN][1000 genomes]
rs12307858	1.00[ASN][1000 genomes]
rs12311077	1.00[ASN][1000 genomes]
rs12312688	1.00[ASN][1000 genomes]
rs12312968	1.00[ASN][1000 genomes]
rs12314101	1.00[ASN][1000 genomes]
rs12314420	1.00[ASN][1000 genomes]
rs12314569	1.00[ASN][1000 genomes]
rs12321158	1.00[ASN][1000 genomes]
rs12321285	1.00[ASN][1000 genomes]
rs12322190	1.00[ASN][1000 genomes]
rs16920101	1.00[ASN][1000 genomes]
rs17539491	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17539792	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17539848	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995226	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995227	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2133543	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34174320	1.00[ASN][1000 genomes]
rs4575368	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931029	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931031	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931644	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931645	1.00[ASN][1000 genomes]
rs4931646	1.00[ASN][1000 genomes]
rs4931647	1.00[ASN][1000 genomes]
rs55938059	1.00[ASN][1000 genomes]
rs56150065	1.00[ASN][1000 genomes]
rs56352987	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59860008	1.00[ASN][1000 genomes]
rs66996003	1.00[ASN][1000 genomes]
rs73083459	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083465	0.91[EUR][1000 genomes]
rs73083468	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083477	1.00[ASN][1000 genomes]
rs73083486	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083489	1.00[ASN][1000 genomes]
rs73083495	1.00[ASN][1000 genomes]
rs73083501	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73085430	1.00[ASN][1000 genomes]
rs73085442	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73087441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73087445	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7488806	1.00[ASN][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	nsv1047658	chr12:32792554-32835646	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv541457	chr12:32792554-32835646	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32713400-32796200	Weak transcription	Fetal Lung	lung
2	chr12:32744200-32797600	Weak transcription	Fetal Heart	heart
3	chr12:32754200-32795200	Weak transcription	Primary B cells from cord blood	blood
4	chr12:32755400-32800600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr12:32757400-32799600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:32757600-32798000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:32757800-32797800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:32758400-32799400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:32758600-32797800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:32758600-32799600	Strong transcription	Liver	Liver
11	chr12:32758600-32800400	Strong transcription	HSMM	muscle
12	chr12:32758800-32799600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:32759800-32795000	Weak transcription	Fetal Kidney	kidney
14	chr12:32760200-32795000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:32762800-32799600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:32765800-32797000	Strong transcription	Adipose Nuclei	Adipose
17	chr12:32767400-32797000	Weak transcription	Psoas Muscle	Psoas
18	chr12:32768400-32799800	Weak transcription	NHDF-Ad	bronchial
19	chr12:32771400-32796200	Strong transcription	Fetal Intestine Large	intestine
20	chr12:32772600-32796000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:32772600-32800000	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr12:32776400-32796000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:32776600-32798400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:32777000-32800200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:32778800-32794800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr12:32778800-32800400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:32779600-32800400	Weak transcription	Small Intestine	intestine
28	chr12:32782000-32810600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:32784200-32799600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:32784600-32795800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:32784600-32796000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:32784600-32796000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:32785200-32795000	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:32785800-32799800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:32786000-32794800	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr12:32786200-32796000	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:32786800-32794800	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:32789000-32798000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr12:32790400-32798000	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr12:32790600-32794800	Strong transcription	Brain Substantia Nigra	brain
41	chr12:32790600-32795400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr12:32790600-32796200	Strong transcription	HUVEC	blood vessel
43	chr12:32790600-32799800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:32790800-32795800	Strong transcription	HSMMtube	muscle
45	chr12:32790800-32798000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:32790800-32799600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr12:32791000-32794800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:32791200-32796000	Strong transcription	HMEC	breast
49	chr12:32791200-32796600	Weak transcription	Fetal Brain Male	brain
50	chr12:32791200-32800200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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