Variant report

Variant	rs4343103
Chromosome Location	chr12:50807570-50807571
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	chr12:50805941..50808167-chr12:50815030..50816604,2	K562	blood:
2	chr12:50795879..50797710-chr12:50805639..50808628,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10467057	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10467107	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783361	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876033	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10876035	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11169423	1.00[CEU][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17124559	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs17124706	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238105	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.98[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4321029	0.82[EUR][1000 genomes]
rs4424740	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768936	1.00[JPT][hapmap]
rs4768976	1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57594106	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58723865	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138887	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304630	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305121	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305168	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7489251	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7959284	0.97[EUR][1000 genomes]
rs7964643	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967393	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7970694	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973910	0.82[EUR][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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50795400-50819400	Weak transcription	Spleen	Spleen
2	chr12:50796000-50809400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:50796000-50809600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:50796000-50812400	Weak transcription	Esophagus	oesophagus
5	chr12:50796000-50819400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:50796600-50809800	Weak transcription	Thymus	Thymus
7	chr12:50796800-50808400	Weak transcription	Fetal Thymus	thymus
8	chr12:50796800-50809600	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:50796800-50810000	Weak transcription	Aorta	Aorta
10	chr12:50796800-50823200	Weak transcription	HSMMtube	muscle
11	chr12:50796800-50824000	Weak transcription	Fetal Brain Female	brain
12	chr12:50796800-50832600	Weak transcription	Brain Substantia Nigra	brain
13	chr12:50797000-50809600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:50797000-50809600	Weak transcription	Fetal Intestine Large	intestine
15	chr12:50797000-50809800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:50797000-50809800	Weak transcription	HSMM	muscle
17	chr12:50797000-50821800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:50797000-50822200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:50797000-50822600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:50797200-50808000	Weak transcription	Primary T cells from cord blood	blood
21	chr12:50797200-50808000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:50797200-50809400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:50797200-50809800	Weak transcription	Colonic Mucosa	Colon
24	chr12:50797200-50810400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr12:50797200-50823800	Weak transcription	NH-A	brain
26	chr12:50797400-50808000	Weak transcription	Primary B cells from cord blood	blood
27	chr12:50797400-50809800	Weak transcription	NHEK	skin
28	chr12:50797600-50808200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:50797600-50808200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:50797600-50808600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:50797600-50808800	Weak transcription	Right Ventricle	heart
32	chr12:50797600-50809000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:50797600-50809600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:50797600-50809600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:50797600-50809600	Weak transcription	Right Atrium	heart
36	chr12:50797600-50809800	Weak transcription	Ovary	ovary
37	chr12:50797600-50809800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr12:50797600-50809800	Weak transcription	NHLF	lung
39	chr12:50797600-50810000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:50797600-50810200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr12:50797600-50811200	Weak transcription	Fetal Heart	heart
42	chr12:50797600-50812000	Weak transcription	HMEC	breast
43	chr12:50797600-50815600	Weak transcription	Brain Germinal Matrix	brain
44	chr12:50797600-50822800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:50797600-50826200	Weak transcription	NHDF-Ad	bronchial
46	chr12:50797600-50826800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:50797600-50829600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:50797800-50809600	Weak transcription	Fetal Lung	lung
49	chr12:50797800-50809600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr12:50797800-50809800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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