Variant report

Variant	rs7306293
Chromosome Location	chr12:51364349-51364350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51358502..51360086-chr12:51361508..51364420,2	K562	blood:
2	chr12:51363073..51365710-chr12:51419692..51421851,2	MCF-7	breast:
3	chr12:51358068..51360086-chr12:51362108..51364420,3	K562	blood:

Variant related genes	Relation type
ENSG00000110911	Chromatin interaction

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs1005559	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1048230	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10506298	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10506299	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169626	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169633	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169636	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169637	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169639	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169641	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169642	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169644	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169646	0.85[ASN][1000 genomes]
rs11169647	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169648	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169649	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169652	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169654	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169655	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169661	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169667	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169669	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169670	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169671	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169672	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11169682	0.83[EUR][1000 genomes]
rs11519977	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11831810	0.82[EUR][1000 genomes]
rs11831946	0.82[EUR][1000 genomes]
rs11833022	0.82[EUR][1000 genomes]
rs12366476	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12366756	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12369278	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369639	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369658	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369666	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12370820	0.83[EUR][1000 genomes]
rs12371463	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12372173	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12809563	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810174	0.81[EUR][1000 genomes]
rs12810596	0.81[EUR][1000 genomes]
rs12810659	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12811658	0.81[EUR][1000 genomes]
rs12811684	0.81[EUR][1000 genomes]
rs12811777	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812650	0.82[EUR][1000 genomes]
rs12812727	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813309	0.81[EUR][1000 genomes]
rs12813368	0.81[EUR][1000 genomes]
rs12813728	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12817386	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12818033	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819296	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12820966	0.81[EUR][1000 genomes]
rs12821444	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822509	0.82[EUR][1000 genomes]
rs12824225	0.82[EUR][1000 genomes]
rs12824840	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824958	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827861	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12828349	0.82[EUR][1000 genomes]
rs12828536	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12830048	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12830073	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12830422	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12831269	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12831597	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs15897	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17125137	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs224565	0.87[ASN][1000 genomes]
rs224589	0.85[ASN][1000 genomes]
rs224591	0.85[ASN][1000 genomes]
rs2285228	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2285230	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2301529	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2516742	0.83[ASN][1000 genomes]
rs2630364	0.86[ASN][1000 genomes]
rs319932	0.87[ASN][1000 genomes]
rs34514224	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34735738	0.82[EUR][1000 genomes]
rs35037088	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35262273	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35379220	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35656976	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35999440	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs407135	0.85[ASN][1000 genomes]
rs422637	0.83[ASN][1000 genomes]
rs422982	0.85[ASN][1000 genomes]
rs440595	0.81[ASN][1000 genomes]
rs4444142	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4471501	0.82[ASN][1000 genomes]
rs454520	0.85[ASN][1000 genomes]
rs4768964	0.80[EUR][1000 genomes]
rs4768967	0.80[EUR][1000 genomes]
rs6580784	0.81[EUR][1000 genomes]
rs67025973	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67133203	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67259551	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67260912	0.81[EUR][1000 genomes]
rs706801	0.90[ASN][1000 genomes]
rs706802	0.90[ASN][1000 genomes]
rs7135059	0.83[EUR][1000 genomes]
rs71445768	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71445772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7305638	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090655	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954140	0.80[EUR][1000 genomes]
rs7959075	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7959082	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964570	0.81[EUR][1000 genomes]
rs7965566	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972406	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7975147	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7976777	0.81[EUR][1000 genomes]
rs7978723	0.80[EUR][1000 genomes]
rs7980874	0.83[EUR][1000 genomes]
rs829022	0.90[ASN][1000 genomes]
rs970098	0.81[EUR][1000 genomes]
rs970099	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv1053466	chr12:51350285-51375969	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51323000-51377200	Weak transcription	Aorta	Aorta
2	chr12:51328800-51378000	Weak transcription	Brain Substantia Nigra	brain
3	chr12:51329600-51373600	Weak transcription	Left Ventricle	heart
4	chr12:51331400-51378400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:51331600-51373800	Weak transcription	Pancreas	Pancrea
6	chr12:51331800-51382000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:51331800-51382000	Weak transcription	Ovary	ovary
8	chr12:51332600-51365000	Weak transcription	Fetal Brain Female	brain
9	chr12:51341600-51378200	Weak transcription	Right Ventricle	heart
10	chr12:51341800-51372600	Weak transcription	Osteobl	bone
11	chr12:51341800-51383200	Weak transcription	Fetal Brain Male	brain
12	chr12:51342400-51373200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:51342800-51378400	Weak transcription	NHLF	lung
14	chr12:51343000-51366200	Weak transcription	Brain Germinal Matrix	brain
15	chr12:51343600-51366200	Weak transcription	Gastric	stomach
16	chr12:51344000-51382000	Weak transcription	Esophagus	oesophagus
17	chr12:51344600-51381600	Weak transcription	Spleen	Spleen
18	chr12:51347200-51378000	Weak transcription	Brain Angular Gyrus	brain
19	chr12:51347400-51378000	Weak transcription	Brain Anterior Caudate	brain
20	chr12:51350800-51380600	Weak transcription	Fetal Lung	lung
21	chr12:51351200-51365200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:51354200-51365200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:51354400-51365200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:51354400-51365200	Weak transcription	Dnd41	blood
25	chr12:51354400-51383800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:51355200-51365200	Weak transcription	HSMM	muscle
27	chr12:51355600-51378000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:51355800-51366200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:51355800-51378000	Weak transcription	A549	lung
30	chr12:51356000-51365200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:51356000-51372600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:51357600-51378000	Weak transcription	Psoas Muscle	Psoas
33	chr12:51358200-51366200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:51358400-51365200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr12:51358800-51364400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:51358800-51377800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:51359600-51365200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:51359800-51380400	Weak transcription	Fetal Kidney	kidney
39	chr12:51360000-51366400	Strong transcription	Fetal Thymus	thymus
40	chr12:51360200-51365600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:51360200-51374400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr12:51360200-51381800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:51360400-51365200	Weak transcription	Liver	Liver
44	chr12:51360400-51365800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:51360400-51372600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:51360400-51374400	Weak transcription	HUVEC	blood vessel
47	chr12:51360600-51365200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:51360600-51381000	Weak transcription	Primary B cells from cord blood	blood
49	chr12:51360600-51381800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:51361600-51365400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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