Variant report

Variant	rs12811658
Chromosome Location	chr12:51481623-51481624
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF4	chr12:51481537-51481925	GM12878	blood:	n/a	n/a
2	BCLAF1	chr12:51481599-51482021	GM12878	blood:	n/a	n/a
3	IKZF1	chr12:51481485-51481932	GM12878	blood:	n/a	n/a
4	YY1	chr12:51481623-51481928	GM12892	blood:	n/a	n/a
5	RUNX3	chr12:51481561-51481902	GM12878	blood:	n/a	n/a
6	RUNX3	chr12:51481577-51481961	GM12878	blood:	n/a	n/a
7	YY1	chr12:51481597-51481926	GM12878	blood:	n/a	n/a
8	EBF1	chr12:51481604-51481898	GM12878	blood:	n/a	n/a
9	BATF	chr12:51481554-51481962	GM12878	blood:	n/a	n/a
10	BATF	chr12:51481578-51481949	GM12878	blood:	n/a	n/a
11	NFIC	chr12:51481475-51482053	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51479655..51481942-chr12:51483772..51485715,3	MCF-7	breast:
2	chr12:51480017..51482806-chr12:51490046..51492901,2	K562	blood:
3	chr12:51475923..51478544-chr12:51478636..51483603,6	K562	blood:

No data

Variant related genes	Relation type
CSRNP2	TF binding region
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1005559	0.86[EUR][1000 genomes]
rs1048230	0.83[EUR][1000 genomes]
rs10506298	0.83[EUR][1000 genomes]
rs10506299	0.83[EUR][1000 genomes]
rs10747604	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169633	0.81[EUR][1000 genomes]
rs11169636	0.81[EUR][1000 genomes]
rs11169637	0.81[EUR][1000 genomes]
rs11169641	0.81[EUR][1000 genomes]
rs11169642	0.81[EUR][1000 genomes]
rs11169644	0.81[EUR][1000 genomes]
rs11169647	0.81[EUR][1000 genomes]
rs11169648	0.81[EUR][1000 genomes]
rs11169649	0.81[EUR][1000 genomes]
rs11169652	0.83[EUR][1000 genomes]
rs11169654	0.83[EUR][1000 genomes]
rs11169655	0.83[EUR][1000 genomes]
rs11169661	0.83[EUR][1000 genomes]
rs11169667	0.83[EUR][1000 genomes]
rs11169669	0.83[EUR][1000 genomes]
rs11169670	0.83[EUR][1000 genomes]
rs11169671	0.83[EUR][1000 genomes]
rs11169672	0.82[EUR][1000 genomes]
rs11169682	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11169712	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11519977	0.81[EUR][1000 genomes]
rs11831810	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11831946	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11833022	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11834746	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12366476	0.81[EUR][1000 genomes]
rs12366756	0.83[EUR][1000 genomes]
rs12370820	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12371463	0.83[EUR][1000 genomes]
rs12372173	0.86[EUR][1000 genomes]
rs12809563	0.81[EUR][1000 genomes]
rs12809790	0.90[ASN][1000 genomes]
rs12810174	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12810455	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12810596	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810659	0.83[EUR][1000 genomes]
rs12810700	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810990	0.90[ASN][1000 genomes]
rs12811508	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12811684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12812650	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12813309	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12813368	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813728	0.82[EUR][1000 genomes]
rs12814498	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12817386	0.83[EUR][1000 genomes]
rs12818033	0.81[EUR][1000 genomes]
rs12819225	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12819517	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12820074	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12820966	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821444	0.81[EUR][1000 genomes]
rs12822509	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12823402	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12824225	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12826153	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827861	0.83[EUR][1000 genomes]
rs12828349	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12828536	0.86[EUR][1000 genomes]
rs12829630	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12830048	0.81[EUR][1000 genomes]
rs12830073	0.86[EUR][1000 genomes]
rs12831269	0.83[EUR][1000 genomes]
rs12833314	0.82[AMR][1000 genomes]
rs12833565	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs15897	0.83[EUR][1000 genomes]
rs17125137	0.81[EUR][1000 genomes]
rs17296192	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2285228	0.83[EUR][1000 genomes]
rs2285230	0.83[EUR][1000 genomes]
rs2301529	0.83[EUR][1000 genomes]
rs34057357	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34481246	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34498074	0.83[AMR][1000 genomes]
rs34735738	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35037088	0.81[EUR][1000 genomes]
rs4768964	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768967	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6580784	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6580792	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6580793	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67133203	0.84[EUR][1000 genomes]
rs67259551	0.83[EUR][1000 genomes]
rs67260912	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67293043	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7135059	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71445772	0.81[EUR][1000 genomes]
rs7305638	0.81[EUR][1000 genomes]
rs7306293	0.81[EUR][1000 genomes]
rs7954140	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7959075	0.81[EUR][1000 genomes]
rs7959082	0.81[EUR][1000 genomes]
rs7960381	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7964570	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972406	0.86[EUR][1000 genomes]
rs7975147	0.86[EUR][1000 genomes]
rs7976777	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978723	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7980874	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs970098	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51477400-51488200	Weak transcription	Spleen	Spleen
2	chr12:51477400-51488800	Weak transcription	Gastric	stomach
3	chr12:51477400-51490000	Weak transcription	Small Intestine	intestine
4	chr12:51477400-51518200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:51477600-51487800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:51477800-51482600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:51477800-51482600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:51477800-51482600	Weak transcription	Brain Germinal Matrix	brain
9	chr12:51477800-51482600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:51477800-51482600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:51477800-51482800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:51477800-51482800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:51477800-51482800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:51477800-51482800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:51477800-51482800	Weak transcription	Fetal Brain Female	brain
16	chr12:51477800-51483200	Weak transcription	Fetal Intestine Small	intestine
17	chr12:51477800-51483800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:51477800-51484000	Weak transcription	HSMM	muscle
19	chr12:51477800-51484000	Weak transcription	HSMMtube	muscle
20	chr12:51477800-51484800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:51477800-51484800	Weak transcription	Brain Anterior Caudate	brain
22	chr12:51477800-51484800	Weak transcription	Fetal Lung	lung
23	chr12:51477800-51484800	Weak transcription	Osteobl	bone
24	chr12:51477800-51485000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:51477800-51485000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:51477800-51485000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:51477800-51485200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:51477800-51485400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:51477800-51485800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:51477800-51485800	Weak transcription	A549	lung
31	chr12:51477800-51486000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:51477800-51486000	Weak transcription	Lung	lung
33	chr12:51477800-51486800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr12:51477800-51487000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:51477800-51487000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:51477800-51487000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:51477800-51487000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:51477800-51487200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:51477800-51487200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:51477800-51487400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:51477800-51487400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:51477800-51487400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:51477800-51487400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:51477800-51487400	Weak transcription	HMEC	breast
45	chr12:51477800-51487600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:51477800-51487600	Weak transcription	Primary T cells from cord blood	blood
47	chr12:51477800-51487600	Weak transcription	Adipose Nuclei	Adipose
48	chr12:51477800-51487600	Weak transcription	Brain Substantia Nigra	brain
49	chr12:51477800-51487600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr12:51477800-51487800	Weak transcription	Liver	Liver

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