Variant report

Variant	rs10773982
Chromosome Location	chr12:1828149-1828150
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1827102..1828667-chr12:1833731..1835866,2	K562	blood:
2	chr12:1771225..1773425-chr12:1825793..1828213,2	K562	blood:
3	chr12:1805534..1808436-chr12:1826572..1828951,2	K562	blood:
4	chr12:1798636..1800286-chr12:1827290..1830049,2	K562	blood:

Variant related genes	Relation type
ENSG00000006831	Chromatin interaction
ENSG00000271500	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1029629	0.87[CEU][hapmap];0.80[MEX][hapmap]
rs10773986	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10773988	0.80[JPT][hapmap]
rs10773989	0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs10848558	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10848569	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11061919	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11061923	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11061925	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11061927	0.82[CEU][hapmap]
rs11061937	0.87[CEU][hapmap];0.90[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11061940	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11061962	0.80[MEX][hapmap];0.81[AMR][1000 genomes]
rs11061968	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11061974	0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11614639	1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs12231894	0.81[AMR][1000 genomes]
rs12342	1.00[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.90[ASN][1000 genomes]
rs12582624	0.81[AMR][1000 genomes]
rs12810020	0.81[AMR][1000 genomes]
rs12812707	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12813694	1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12828908	1.00[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12831353	1.00[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2058035	0.83[CEU][hapmap];0.80[MEX][hapmap]
rs2068485	0.87[ASN][1000 genomes]
rs2240613	0.90[ASN][1000 genomes]
rs2286385	1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs34375871	0.81[AMR][1000 genomes]
rs3809266	0.90[ASN][1000 genomes]
rs4766413	0.88[MEX][hapmap];0.87[AMR][1000 genomes]
rs6489324	0.81[AMR][1000 genomes]
rs66590925	0.81[AMR][1000 genomes]
rs7132033	0.83[CEU][hapmap];0.80[MEX][hapmap]
rs7297509	0.81[AMR][1000 genomes]
rs7313760	0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7975826	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7978818	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs929434	1.00[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv832305	chr12:1769852-1936054	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1045312	chr12:1805856-1843202	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10773982	IL12B	trans	lymphoblastoid	seeQTL

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1801800-1828200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:1801800-1830800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:1802400-1841200	Weak transcription	HMEC	breast
4	chr12:1806000-1840000	Weak transcription	Spleen	Spleen
5	chr12:1806200-1844400	Weak transcription	NHEK	skin
6	chr12:1807200-1847400	Weak transcription	Fetal Stomach	stomach
7	chr12:1808400-1830800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:1816200-1836400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:1816200-1849400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:1816200-1857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:1816200-1866400	Weak transcription	Esophagus	oesophagus
12	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
13	chr12:1816400-1840200	Weak transcription	Colonic Mucosa	Colon
14	chr12:1816400-1841400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:1816400-1841400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:1816600-1846200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:1817000-1835200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:1817000-1856600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:1819200-1833800	Enhancers	Liver	Liver
20	chr12:1820200-1832400	Weak transcription	Primary T cells from cord blood	blood
21	chr12:1821400-1830800	Weak transcription	Hela-S3	cervix
22	chr12:1822400-1838600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:1822600-1830200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:1823000-1866600	Weak transcription	Gastric	stomach
25	chr12:1823600-1828800	Weak transcription	Left Ventricle	heart
26	chr12:1823800-1831000	Weak transcription	Lung	lung
27	chr12:1824000-1849400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:1824000-1849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:1824000-1850400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr12:1824000-1866600	Weak transcription	HSMM	muscle
31	chr12:1824200-1833600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:1824400-1833600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:1824800-1828200	Weak transcription	Dnd41	blood
34	chr12:1824800-1828600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:1824800-1835800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:1824800-1839000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:1824800-1846600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:1824800-1849400	Weak transcription	Thymus	Thymus
39	chr12:1825000-1835400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:1825000-1849000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr12:1825000-1849400	Weak transcription	Fetal Thymus	thymus
42	chr12:1825200-1831200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:1825200-1833000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:1825200-1836600	Weak transcription	Fetal Intestine Small	intestine
45	chr12:1825200-1846600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:1825200-1850200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:1825200-1855400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:1825400-1828200	Weak transcription	Fetal Intestine Large	intestine
49	chr12:1825400-1828400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:1825400-1828800	Weak transcription	Pancreas	Pancrea

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