Variant report

Variant	rs17119778
Chromosome Location	chr12:50802370-50802371
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50801905..50804539-chr12:50808374..50809962,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10506293	0.90[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10735825	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10747580	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10747581	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10783362	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.87[LWK][hapmap];0.91[MKK][hapmap];0.94[TSI][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876030	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10876034	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169408	0.89[ASN][1000 genomes]
rs11169422	0.87[ASN][1000 genomes]
rs11169427	1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169440	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11503904	0.83[ASN][1000 genomes]
rs11610442	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12099511	0.93[ASN][1000 genomes]
rs12307602	0.93[ASN][1000 genomes]
rs12578525	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12824882	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17119774	1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs17124672	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs17531020	0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs4238104	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4257057	1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4298982	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4351895	1.00[ASW][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.94[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4450234	0.95[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs4768877	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768878	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768879	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768880	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768928	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768936	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56671180	0.89[ASN][1000 genomes]
rs56989201	0.86[ASN][1000 genomes]
rs57283487	0.85[ASN][1000 genomes]
rs57293958	0.87[ASN][1000 genomes]
rs57578212	0.87[ASN][1000 genomes]
rs57811009	0.92[ASN][1000 genomes]
rs57828015	0.87[ASN][1000 genomes]
rs58500867	0.93[ASN][1000 genomes]
rs58869591	0.87[ASN][1000 genomes]
rs58888905	0.93[ASN][1000 genomes]
rs58916974	0.95[ASN][1000 genomes]
rs59696942	0.88[ASN][1000 genomes]
rs59968707	0.88[ASN][1000 genomes]
rs60010359	0.93[ASN][1000 genomes]
rs60198651	0.86[ASN][1000 genomes]
rs60201334	0.87[ASN][1000 genomes]
rs60242613	0.87[ASN][1000 genomes]
rs60420087	0.92[ASN][1000 genomes]
rs60610745	0.91[ASN][1000 genomes]
rs60743903	0.88[ASN][1000 genomes]
rs61578731	0.88[ASN][1000 genomes]
rs6580753	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6580754	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7133488	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135159	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7138063	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7295610	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295698	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7296212	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7299321	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304017	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7304262	0.86[ASN][1000 genomes]
rs7310094	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7955176	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs7957033	0.94[ASW][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7965165	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7974480	1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs7978625	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.92[LWK][hapmap];0.98[MKK][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
7	nsv469376	chr12:50792846-50856613	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
8	nsv558841	chr12:50792846-50856613	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
9	nsv470291	chr12:50792846-50858820	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50795400-50819400	Weak transcription	Spleen	Spleen
2	chr12:50795600-50802600	Weak transcription	Gastric	stomach
3	chr12:50796000-50809400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:50796000-50809600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:50796000-50812400	Weak transcription	Esophagus	oesophagus
6	chr12:50796000-50819400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:50796400-50802600	Weak transcription	Small Intestine	intestine
8	chr12:50796600-50809800	Weak transcription	Thymus	Thymus
9	chr12:50796800-50808400	Weak transcription	Fetal Thymus	thymus
10	chr12:50796800-50809600	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:50796800-50810000	Weak transcription	Aorta	Aorta
12	chr12:50796800-50823200	Weak transcription	HSMMtube	muscle
13	chr12:50796800-50824000	Weak transcription	Fetal Brain Female	brain
14	chr12:50796800-50832600	Weak transcription	Brain Substantia Nigra	brain
15	chr12:50797000-50807200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:50797000-50809600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:50797000-50809600	Weak transcription	Fetal Intestine Large	intestine
18	chr12:50797000-50809800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr12:50797000-50809800	Weak transcription	HSMM	muscle
20	chr12:50797000-50821800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr12:50797000-50822200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:50797000-50822600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:50797200-50802800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:50797200-50806200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:50797200-50808000	Weak transcription	Primary T cells from cord blood	blood
26	chr12:50797200-50808000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:50797200-50809400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:50797200-50809800	Weak transcription	Colonic Mucosa	Colon
29	chr12:50797200-50810400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr12:50797200-50823800	Weak transcription	NH-A	brain
31	chr12:50797400-50806200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:50797400-50808000	Weak transcription	Primary B cells from cord blood	blood
33	chr12:50797400-50809800	Weak transcription	NHEK	skin
34	chr12:50797600-50804600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:50797600-50806000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr12:50797600-50806200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:50797600-50808200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr12:50797600-50808200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:50797600-50808600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:50797600-50808800	Weak transcription	Right Ventricle	heart
41	chr12:50797600-50809000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:50797600-50809600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:50797600-50809600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:50797600-50809600	Weak transcription	Right Atrium	heart
45	chr12:50797600-50809800	Weak transcription	Ovary	ovary
46	chr12:50797600-50809800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr12:50797600-50809800	Weak transcription	NHLF	lung
48	chr12:50797600-50810000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:50797600-50810200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr12:50797600-50811200	Weak transcription	Fetal Heart	heart

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