Variant report

Variant	rs12510851
Chromosome Location	chr4:110752010-110752011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:110750840..110753466-chr4:110761296..110764201,3	K562	blood:
2	chr4:110748139..110750172-chr4:110750209..110753037,2	MCF-7	breast:
3	chr4:110740840..110743631-chr4:110750092..110752586,3	MCF-7	breast:
4	chr4:110749531..110752514-chr4:110872921..110875581,2	K562	blood:
5	chr4:110741410..110743630-chr4:110750496..110752725,2	K562	blood:

Variant related genes	Relation type
ENSG00000180245	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10020617	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10022841	0.91[CHB][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11937249	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12500239	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12504835	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12513108	0.95[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12643147	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12644142	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13107617	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13109228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13112387	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13128301	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13129185	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13140289	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13141065	0.91[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13150454	0.95[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1860130	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3188897	0.82[JPT][hapmap]
rs34378309	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34706258	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34717063	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34734592	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35426158	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36101562	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3775961	0.95[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4353905	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4422417	1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4610335	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4698749	0.95[CHB][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4698750	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4698797	0.83[JPT][hapmap]
rs6814743	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6814789	0.83[JPT][hapmap]
rs6827802	0.80[JPT][hapmap]
rs6842245	0.89[CHB][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6858351	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7442158	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs764205	0.83[JPT][hapmap]
rs7654660	0.83[JPT][hapmap]
rs7657133	0.86[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7678178	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7684459	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7698794	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9993509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110737600-110770600	Weak transcription	Aorta	Aorta
2	chr4:110737800-110753200	Weak transcription	Lung	lung
3	chr4:110738000-110760800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:110738400-110757200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:110741000-110753000	Weak transcription	Left Ventricle	heart
6	chr4:110742200-110753000	Weak transcription	Fetal Kidney	kidney
7	chr4:110742200-110764400	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:110742600-110752400	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:110744000-110759600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:110744400-110774400	Weak transcription	Psoas Muscle	Psoas
11	chr4:110744600-110773200	Weak transcription	Primary T cells from cord blood	blood
12	chr4:110746400-110764000	Weak transcription	Primary B cells from cord blood	blood
13	chr4:110746600-110761200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:110746800-110752400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:110746800-110752400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:110746800-110753000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:110746800-110759400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:110746800-110767600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr4:110747000-110752400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:110747000-110752400	Weak transcription	Fetal Thymus	thymus
21	chr4:110747000-110752600	Weak transcription	Liver	Liver
22	chr4:110747000-110754000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:110747000-110754800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:110747000-110757600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:110747200-110752400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:110747200-110756400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:110747600-110758400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr4:110748400-110752400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:110748600-110752800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:110749600-110757600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:110750400-110753200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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