Variant report

Variant	rs7308757
Chromosome Location	chr12:1829016-1829017
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1798636..1800286-chr12:1827290..1830049,2	K562	blood:

Variant related genes	Relation type
ENSG00000006831	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11061904	1.00[EUR][1000 genomes]
rs1860049	1.00[EUR][1000 genomes]
rs2041059	1.00[EUR][1000 genomes]
rs2108398	1.00[EUR][1000 genomes]
rs2215094	1.00[TSI][hapmap]
rs2369974	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2370054	1.00[EUR][1000 genomes]
rs35510932	1.00[EUR][1000 genomes]
rs4765838	1.00[EUR][1000 genomes]
rs4766411	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4766420	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs56369812	1.00[EUR][1000 genomes]
rs6489321	1.00[EUR][1000 genomes]
rs6489325	1.00[EUR][1000 genomes]
rs7133749	1.00[EUR][1000 genomes]
rs7135229	1.00[EUR][1000 genomes]
rs7136278	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7297878	1.00[EUR][1000 genomes]
rs7304843	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7314133	1.00[EUR][1000 genomes]
rs74061311	1.00[EUR][1000 genomes]
rs74061331	1.00[EUR][1000 genomes]
rs74061332	1.00[EUR][1000 genomes]
rs758026	1.00[EUR][1000 genomes]
rs758027	1.00[EUR][1000 genomes]
rs758169	1.00[EUR][1000 genomes]
rs7957003	1.00[EUR][1000 genomes]
rs7962777	1.00[EUR][1000 genomes]
rs7964434	1.00[EUR][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	chr12:1801800-1830800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr12:1802400-1841200	Weak transcription	HMEC	breast
3	chr12:1806000-1840000	Weak transcription	Spleen	Spleen
4	chr12:1806200-1844400	Weak transcription	NHEK	skin
5	chr12:1807200-1847400	Weak transcription	Fetal Stomach	stomach
6	chr12:1808400-1830800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:1816200-1836400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:1816200-1849400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:1816200-1857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:1816200-1866400	Weak transcription	Esophagus	oesophagus
11	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
12	chr12:1816400-1840200	Weak transcription	Colonic Mucosa	Colon
13	chr12:1816400-1841400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:1816400-1841400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:1816600-1846200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:1817000-1835200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:1817000-1856600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:1819200-1833800	Enhancers	Liver	Liver
19	chr12:1820200-1832400	Weak transcription	Primary T cells from cord blood	blood
20	chr12:1821400-1830800	Weak transcription	Hela-S3	cervix
21	chr12:1822400-1838600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:1822600-1830200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:1823000-1866600	Weak transcription	Gastric	stomach
24	chr12:1823800-1831000	Weak transcription	Lung	lung
25	chr12:1824000-1849400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:1824000-1849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:1824000-1850400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr12:1824000-1866600	Weak transcription	HSMM	muscle
29	chr12:1824200-1833600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr12:1824400-1833600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:1824800-1835800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:1824800-1839000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:1824800-1846600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:1824800-1849400	Weak transcription	Thymus	Thymus
35	chr12:1825000-1835400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:1825000-1849000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr12:1825000-1849400	Weak transcription	Fetal Thymus	thymus
38	chr12:1825200-1831200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:1825200-1833000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:1825200-1836600	Weak transcription	Fetal Intestine Small	intestine
41	chr12:1825200-1846600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:1825200-1850200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:1825200-1855400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:1825400-1830800	Weak transcription	Ovary	ovary
45	chr12:1825400-1835200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:1825400-1836200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:1826000-1829200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:1826000-1838800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:1826000-1846800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:1826000-1849200	Weak transcription	Primary B cells from peripheral blood	blood

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