Variant report

Variant	rs73292874
Chromosome Location	chr12:30806894-30806895
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:30801328..30803768-chr12:30804474..30807381,2	MCF-7	breast:
2	chr12:30802041..30804349-chr12:30805097..30807547,2	K562	blood:
3	chr12:30800614..30803808-chr12:30804249..30807160,3	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10743725	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10843794	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10843797	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10843798	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10843803	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10843805	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051006	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11051009	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051023	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051026	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051030	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051034	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051044	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11051046	0.88[ASN][1000 genomes]
rs11610452	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12306961	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12308822	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12310942	0.88[ASN][1000 genomes]
rs12315407	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12315446	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12371883	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12372023	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2099028	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3888018	0.82[AMR][1000 genomes]
rs3906774	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56003450	0.91[ASN][1000 genomes]
rs56705455	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57153590	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59483134	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6487924	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6487929	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6487931	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7135005	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7302606	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7302757	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7303665	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7306125	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7307432	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7308638	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7310127	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7315859	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74083892	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955626	0.87[AMR][1000 genomes]
rs7963438	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7963524	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7968669	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7968760	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7972061	0.87[AMR][1000 genomes]
rs7974251	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9651844	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30767000-30844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:30771000-30812200	Weak transcription	Aorta	Aorta
3	chr12:30774600-30812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:30775600-30815400	Weak transcription	Right Ventricle	heart
5	chr12:30775800-30813200	Weak transcription	HMEC	breast
6	chr12:30775800-30815200	Weak transcription	NHEK	skin
7	chr12:30776000-30808400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr12:30779200-30812200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:30779800-30825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:30780800-30847000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:30781800-30826400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:30782400-30814800	Weak transcription	Brain Angular Gyrus	brain
13	chr12:30782400-30821200	Weak transcription	Esophagus	oesophagus
14	chr12:30783800-30827400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:30783800-30829000	Weak transcription	Small Intestine	intestine
16	chr12:30784000-30815800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:30784800-30836600	Weak transcription	Fetal Heart	heart
18	chr12:30785000-30847800	Weak transcription	Gastric	stomach
19	chr12:30785200-30846400	Weak transcription	Spleen	Spleen
20	chr12:30785400-30847200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:30785800-30809000	Weak transcription	Pancreas	Pancrea
22	chr12:30785800-30813200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:30786000-30813000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:30786000-30826600	Weak transcription	Colonic Mucosa	Colon
25	chr12:30786800-30808400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:30787200-30813000	Weak transcription	Ovary	ovary
27	chr12:30787200-30813400	Weak transcription	Brain Substantia Nigra	brain
28	chr12:30787200-30821200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:30788000-30821000	Weak transcription	Stomach Mucosa	stomach
30	chr12:30790000-30813000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:30790200-30812200	Weak transcription	Brain Anterior Caudate	brain
32	chr12:30790200-30813000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:30790400-30813200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:30791200-30815600	Weak transcription	Fetal Brain Female	brain
35	chr12:30791200-30825200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:30791600-30811000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr12:30792000-30813200	Weak transcription	Psoas Muscle	Psoas
38	chr12:30792600-30808800	Weak transcription	Lung	lung
39	chr12:30792800-30809000	Weak transcription	Thymus	Thymus
40	chr12:30792800-30812200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:30792800-30812200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:30793000-30808400	Weak transcription	Fetal Thymus	thymus
43	chr12:30793000-30812200	Weak transcription	Left Ventricle	heart
44	chr12:30793600-30825200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr12:30794200-30813200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:30796400-30812000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr12:30796600-30808400	Weak transcription	Hela-S3	cervix
48	chr12:30796800-30808400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:30796800-30808800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr12:30796800-30812800	Weak transcription	Brain Inferior Temporal Lobe	brain

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