Variant report

Variant	rs11061947
Chromosome Location	chr12:1831300-1831301
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	chr1:45986260..45988935-chr12:1830161..1832459,2	MCF-7	breast:
2	chr12:1825414..1827008-chr12:1830876..1832417,2	K562	blood:

Variant related genes	Relation type
ENSG00000117450	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10491959	0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10848555	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11061928	0.83[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11061929	0.83[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11061931	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11061932	0.83[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11061934	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11061938	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11061939	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11061941	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11061943	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11061944	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11061949	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11061950	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11061951	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11061953	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11061954	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11061955	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11061958	0.84[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11061959	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11061961	0.84[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11061963	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11061975	0.85[EUR][1000 genomes]
rs11061979	0.85[EUR][1000 genomes]
rs11608456	0.83[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11610397	0.85[EUR][1000 genomes]
rs11610411	0.85[EUR][1000 genomes]
rs11610838	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11612238	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11612726	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11613594	0.80[CHB][hapmap];0.85[EUR][1000 genomes]
rs11614622	0.85[EUR][1000 genomes]
rs12229061	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12229999	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12230349	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12230994	0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16928662	0.83[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16928665	0.83[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2286382	0.83[CHB][hapmap];0.85[EUR][1000 genomes]
rs2369975	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58500393	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61153802	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6489322	0.84[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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1802400-1841200	Weak transcription	HMEC	breast
2	chr12:1806000-1840000	Weak transcription	Spleen	Spleen
3	chr12:1806200-1844400	Weak transcription	NHEK	skin
4	chr12:1807200-1847400	Weak transcription	Fetal Stomach	stomach
5	chr12:1816200-1836400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:1816200-1849400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:1816200-1857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:1816200-1866400	Weak transcription	Esophagus	oesophagus
9	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
10	chr12:1816400-1840200	Weak transcription	Colonic Mucosa	Colon
11	chr12:1816400-1841400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:1816400-1841400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:1816600-1846200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:1817000-1835200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:1817000-1856600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:1819200-1833800	Enhancers	Liver	Liver
17	chr12:1820200-1832400	Weak transcription	Primary T cells from cord blood	blood
18	chr12:1822400-1838600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:1823000-1866600	Weak transcription	Gastric	stomach
20	chr12:1824000-1849400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:1824000-1849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:1824000-1850400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr12:1824000-1866600	Weak transcription	HSMM	muscle
24	chr12:1824200-1833600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:1824400-1833600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:1824800-1835800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:1824800-1839000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:1824800-1846600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:1824800-1849400	Weak transcription	Thymus	Thymus
30	chr12:1825000-1835400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:1825000-1849000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr12:1825000-1849400	Weak transcription	Fetal Thymus	thymus
33	chr12:1825200-1833000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:1825200-1836600	Weak transcription	Fetal Intestine Small	intestine
35	chr12:1825200-1846600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:1825200-1850200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:1825200-1855400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:1825400-1835200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:1825400-1836200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:1826000-1838800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:1826000-1846800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:1826000-1849200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr12:1826000-1885400	Weak transcription	NH-A	brain
44	chr12:1826200-1846600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:1826200-1849400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:1826200-1849600	Weak transcription	A549	lung
47	chr12:1826400-1835000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr12:1826400-1846800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr12:1826400-1849200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:1826600-1831400	Weak transcription	GM12878-XiMat	blood

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