Variant report

Variant	rs73187429
Chromosome Location	chr12:104985877-104985878
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104985616..104988878-chr12:104989745..104992186,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10778341	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10861239	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10861240	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10861241	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10861242	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10861243	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10861244	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10861245	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10861246	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10861248	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112118	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11112119	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11112120	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11112121	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11112122	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11112123	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112124	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112125	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112126	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112127	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11610583	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1529423	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1529424	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17035902	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1704898	0.94[ASN][1000 genomes]
rs17813400	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4964824	0.93[ASN][1000 genomes]
rs4964825	0.95[ASN][1000 genomes]
rs61938575	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6539161	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7301126	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7301450	0.81[EUR][1000 genomes]
rs7306538	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7306664	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73187418	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73187426	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73187427	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7954025	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7954312	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7979531	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[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	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1035364	chr12:104948307-105003705	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104971000-104990600	Weak transcription	Lung	lung
2	chr12:104972200-104989800	Weak transcription	Fetal Brain Male	brain
3	chr12:104973800-104990800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:104974600-104987600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:104974600-104988800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:104974600-104990600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:104975000-104988800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:104975600-104988400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:104975600-104992000	Weak transcription	Gastric	stomach
10	chr12:104976000-104987800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:104976800-104996800	Weak transcription	Primary T cells from cord blood	blood
12	chr12:104977200-104987200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:104978000-104989600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:104978400-104989600	Weak transcription	Primary B cells from cord blood	blood
15	chr12:104979000-104986000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:104980200-104989200	Weak transcription	Fetal Thymus	thymus
17	chr12:104980200-104989800	Weak transcription	Aorta	Aorta
18	chr12:104980200-104997600	Weak transcription	Esophagus	oesophagus
19	chr12:104980600-104990600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:104981400-104988600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:104982400-104989800	Weak transcription	Fetal Heart	heart
22	chr12:104982600-104986800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:104982600-104994800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:104982800-104988000	Strong transcription	Dnd41	blood
25	chr12:104982800-104989200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:104982800-104989200	Weak transcription	Fetal Stomach	stomach
27	chr12:104982800-104989200	Weak transcription	HSMM	muscle
28	chr12:104982800-104995400	Weak transcription	Thymus	Thymus
29	chr12:104983000-104987600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:104983000-104988000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:104983000-104988800	Weak transcription	GM12878-XiMat	blood
32	chr12:104983000-104989200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:104983000-104989200	Weak transcription	NH-A	brain
34	chr12:104983000-104989200	Weak transcription	NHLF	lung
35	chr12:104983000-104989200	Weak transcription	Osteobl	bone
36	chr12:104983000-104989400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:104983200-104986800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:104983200-104987000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:104983200-104987000	Enhancers	NHEK	skin
40	chr12:104983200-104987200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:104983200-104989400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr12:104983200-104996800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:104983200-104997800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:104983400-104986200	Enhancers	HMEC	breast
45	chr12:104984400-104987000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:104985000-104986200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:104985000-104989400	Weak transcription	Right Atrium	heart
48	chr12:104985000-104996400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:104985200-104986200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:104985200-104989400	Weak transcription	Placenta	Placenta

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