Variant report

Variant	rs12204734
Chromosome Location	chr6:144852201-144852202
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144852020..144854174-chr6:144867954..144869789,2	K562	blood:
2	chr6:144846785..144849151-chr6:144850372..144853303,2	K562	blood:
3	chr6:144848573..144853071-chr6:144854031..144858388,6	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10080939	0.89[EUR][1000 genomes]
rs10447422	0.86[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10457764	0.86[CEU][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10499230	0.86[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11155359	0.93[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11155367	1.00[JPT][hapmap]
rs11155369	1.00[JPT][hapmap]
rs11756963	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12190718	0.93[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192622	1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12198720	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs12200263	0.86[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12202537	0.95[GIH][hapmap];0.94[TSI][hapmap]
rs12202539	0.86[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12205460	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12209699	0.93[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12209889	0.86[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17073869	0.87[EUR][1000 genomes]
rs17793570	0.93[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1918749	0.93[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28588721	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34810766	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4259269	0.95[GIH][hapmap]
rs4460225	0.87[EUR][1000 genomes]
rs4584002	0.91[GIH][hapmap]
rs4615409	0.89[EUR][1000 genomes]
rs4896724	0.90[GIH][hapmap]
rs55833104	0.80[ASN][1000 genomes]
rs56264877	0.87[EUR][1000 genomes]
rs60530618	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6570634	0.93[GIH][hapmap]
rs6908911	0.90[GIH][hapmap]
rs6912724	0.90[GIH][hapmap]
rs6917268	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6917519	0.80[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6923281	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6942069	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73600166	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73600170	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73603015	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7773603	0.86[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9321977	0.95[GIH][hapmap]
rs9496982	0.93[GIH][hapmap]
rs9497026	0.85[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144803400-144869800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:144807400-144904000	Weak transcription	Brain Substantia Nigra	brain
3	chr6:144812400-144881000	Weak transcription	Stomach Mucosa	stomach
4	chr6:144812600-144869800	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:144815000-144855400	Weak transcription	Psoas Muscle	Psoas
6	chr6:144815200-144881000	Weak transcription	NHEK	skin
7	chr6:144816600-144881400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:144821200-144861000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:144827200-144857200	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr6:144829800-144854200	Weak transcription	Gastric	stomach
11	chr6:144829800-144863800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:144831400-144879000	Strong transcription	Primary B cells from cord blood	blood
13	chr6:144831600-144853200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr6:144831800-144857000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr6:144832200-144856800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr6:144832400-144862200	Weak transcription	Small Intestine	intestine
17	chr6:144833800-144857000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr6:144833800-144857200	Strong transcription	Primary T cells from cord blood	blood
19	chr6:144833800-144868200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr6:144835000-144856400	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:144837200-144880800	Weak transcription	Brain Angular Gyrus	brain
22	chr6:144839600-144855400	Weak transcription	HSMMtube	muscle
23	chr6:144843000-144854800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:144843200-144855800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr6:144843600-144857200	Strong transcription	Primary hematopoietic stem cells	blood
26	chr6:144844400-144861400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr6:144844400-144870000	Weak transcription	Brain Hippocampus Middle	brain
28	chr6:144844600-144860800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:144845400-144853400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr6:144845400-144853600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr6:144847000-144855400	Strong transcription	Adipose Nuclei	Adipose
32	chr6:144847200-144854600	Strong transcription	Fetal Thymus	thymus
33	chr6:144847200-144856000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:144847200-144857000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:144847600-144856400	Strong transcription	Liver	Liver
36	chr6:144847800-144857000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:144847800-144857200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:144848000-144852800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr6:144848000-144856400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr6:144848600-144852400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr6:144848800-144853400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr6:144848800-144853400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:144849000-144856000	Strong transcription	HepG2	liver
44	chr6:144849200-144852400	Enhancers	Fetal Heart	heart
45	chr6:144849200-144853600	Strong transcription	Lung	lung
46	chr6:144849200-144854400	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr6:144849400-144852400	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr6:144849600-144852400	Strong transcription	Thymus	Thymus
49	chr6:144849600-144852400	Strong transcription	Spleen	Spleen
50	chr6:144849600-144852600	Strong transcription	Placenta	Placenta

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