Variant report

Variant	rs12220463
Chromosome Location	chr10:27814606-27814607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:27814281..27821266-chr10:27824273..27827197,8	K562	blood:
2	chr10:27807125..27810398-chr10:27814464..27816469,3	K562	blood:
3	chr10:27814407..27819485-chr10:27827965..27831348,4	K562	blood:
4	chr10:27808762..27810610-chr10:27813283..27816177,3	K562	blood:
5	chr10:27802914..27806574-chr10:27810162..27816250,5	MCF-7	breast:
6	chr10:27791661..27794464-chr10:27811491..27814679,3	K562	blood:
7	chr10:27813292..27818525-chr10:27818980..27823484,5	K562	blood:

Variant related genes	Relation type
ENSG00000099246	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1002861	0.86[EUR][1000 genomes]
rs10082387	0.81[ASN][1000 genomes]
rs1027342	0.86[EUR][1000 genomes]
rs10508722	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10508724	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10764695	0.82[ASN][1000 genomes]
rs10764699	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10764718	0.86[EUR][1000 genomes]
rs10764719	0.86[EUR][1000 genomes]
rs10829285	0.86[EUR][1000 genomes]
rs10829286	0.86[EUR][1000 genomes]
rs10829294	0.86[EUR][1000 genomes]
rs10829296	0.86[EUR][1000 genomes]
rs10829302	0.86[EUR][1000 genomes]
rs10829304	0.86[EUR][1000 genomes]
rs10829305	0.86[EUR][1000 genomes]
rs11015807	0.82[ASN][1000 genomes]
rs11015810	0.81[ASN][1000 genomes]
rs11015812	0.83[ASN][1000 genomes]
rs11015815	0.83[ASN][1000 genomes]
rs11015816	0.83[ASN][1000 genomes]
rs11015817	0.83[ASN][1000 genomes]
rs11015826	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11015832	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11015833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11015840	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11015856	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11015857	0.94[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11015858	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11015862	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11015875	1.00[EUR][1000 genomes]
rs11015898	0.86[EUR][1000 genomes]
rs11015923	0.86[EUR][1000 genomes]
rs11015927	0.86[EUR][1000 genomes]
rs11015928	0.86[EUR][1000 genomes]
rs11015936	0.86[EUR][1000 genomes]
rs11015938	0.86[EUR][1000 genomes]
rs11015946	0.86[EUR][1000 genomes]
rs11015948	0.86[EUR][1000 genomes]
rs11015957	0.86[EUR][1000 genomes]
rs11015969	0.86[EUR][1000 genomes]
rs11015973	0.86[EUR][1000 genomes]
rs12217955	0.86[EUR][1000 genomes]
rs12218420	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12219258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12219955	0.86[EUR][1000 genomes]
rs12220217	0.86[EUR][1000 genomes]
rs12264856	0.86[EUR][1000 genomes]
rs12411804	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12569521	0.86[EUR][1000 genomes]
rs12571836	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12572531	0.86[EUR][1000 genomes]
rs12573111	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17756134	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17756253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1886402	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2242356	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3765133	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4514312	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs57812861	0.86[EUR][1000 genomes]
rs61226328	0.83[ASN][1000 genomes]
rs72629756	0.82[ASN][1000 genomes]
rs72629757	0.82[ASN][1000 genomes]
rs72629758	0.83[ASN][1000 genomes]
rs72629759	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72629760	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72629761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72629762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72629763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72629764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72629766	0.86[EUR][1000 genomes]
rs72629767	0.86[EUR][1000 genomes]
rs72629772	0.86[EUR][1000 genomes]
rs72629774	0.86[EUR][1000 genomes]
rs72629775	0.86[EUR][1000 genomes]
rs72629776	0.86[EUR][1000 genomes]
rs72629777	0.86[EUR][1000 genomes]
rs8181307	0.86[EUR][1000 genomes]

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	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv550241	chr10:27569521-28025771	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1045257	chr10:27572440-27926946	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1053952	chr10:27659365-27915029	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27794200-27817000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:27794400-27824000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr10:27794400-27837400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr10:27794800-27822800	Weak transcription	Colonic Mucosa	Colon
5	chr10:27794800-27823200	Weak transcription	Esophagus	oesophagus
6	chr10:27794800-27823200	Weak transcription	Spleen	Spleen
7	chr10:27795200-27816800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr10:27795600-27814800	Weak transcription	Pancreas	Pancrea
9	chr10:27795600-27816800	Weak transcription	Brain Hippocampus Middle	brain
10	chr10:27795800-27822600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr10:27795800-27832600	Weak transcription	Small Intestine	intestine
12	chr10:27800800-27823200	Weak transcription	Brain Anterior Caudate	brain
13	chr10:27801000-27815200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr10:27801000-27816600	Weak transcription	HUVEC	blood vessel
15	chr10:27801800-27829000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr10:27803200-27818200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr10:27803200-27822600	Weak transcription	NH-A	brain
18	chr10:27803400-27822400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr10:27803400-27823200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr10:27803400-27823800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:27803400-27830800	Weak transcription	Hela-S3	cervix
22	chr10:27803800-27817000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr10:27803800-27817200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr10:27804000-27814800	Weak transcription	HSMM	muscle
25	chr10:27804000-27816800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr10:27804000-27817400	Weak transcription	Fetal Muscle Leg	muscle
27	chr10:27804000-27817600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr10:27804000-27822600	Weak transcription	Dnd41	blood
29	chr10:27804000-27823000	Weak transcription	Lung	lung
30	chr10:27804000-27823000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr10:27804000-27823200	Weak transcription	Gastric	stomach
32	chr10:27804000-27823400	Weak transcription	Aorta	Aorta
33	chr10:27804200-27814800	Weak transcription	Adipose Nuclei	Adipose
34	chr10:27804200-27818200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr10:27804200-27822400	Weak transcription	HMEC	breast
36	chr10:27804200-27822600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr10:27804400-27822800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr10:27804600-27814800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr10:27804600-27814800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr10:27804600-27816800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr10:27804600-27822600	Weak transcription	Placenta	Placenta
42	chr10:27804600-27823000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:27804600-27823000	Weak transcription	Fetal Intestine Large	intestine
44	chr10:27805200-27815200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr10:27805600-27814800	Weak transcription	Fetal Stomach	stomach
46	chr10:27805600-27822800	Weak transcription	Fetal Thymus	thymus
47	chr10:27805800-27818000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr10:27806000-27823200	Weak transcription	NHEK	skin
49	chr10:27807000-27817400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr10:27807200-27820400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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