Variant report

Variant	rs7133749
Chromosome Location	chr12:1874417-1874418
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1867589..1870103-chr12:1873330..1875021,2	K562	blood:
2	chr12:1872563..1875477-chr12:1898217..1901063,2	MCF-7	breast:
3	chr12:1869879..1872809-chr12:1873786..1877350,6	MCF-7	breast:
4	chr12:1874405..1877121-chr12:1883509..1886504,3	MCF-7	breast:
5	chr12:1868127..1871577-chr12:1871760..1875229,3	MCF-7	breast:
6	chr12:1867305..1870150-chr12:1874080..1875881,2	K562	blood:

Variant related genes	Relation type
ENSG00000006831	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11061904	1.00[EUR][1000 genomes]
rs1860049	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2041059	1.00[EUR][1000 genomes]
rs2108398	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2369974	0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2370054	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35510932	1.00[EUR][1000 genomes]
rs4765838	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4766411	1.00[EUR][1000 genomes]
rs4766420	1.00[EUR][1000 genomes]
rs56369812	1.00[EUR][1000 genomes]
rs6489321	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6489325	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7135229	1.00[EUR][1000 genomes]
rs7136278	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs7297878	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7304843	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7308757	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	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs758027	0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs758169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7957003	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7962777	0.93[YRI][hapmap];0.93[AFR][1000 genomes];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	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
4	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
5	nsv832306	chr12:1847726-2001308	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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	17 gene(s)	inside rSNPs	diseases
6	nsv1038425	chr12:1857052-1902302	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
2	chr12:1826000-1885400	Weak transcription	NH-A	brain
3	chr12:1845600-1885200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:1847600-1885200	Weak transcription	Right Atrium	heart
5	chr12:1849800-1905600	Weak transcription	Small Intestine	intestine
6	chr12:1850200-1885200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:1850400-1904800	Weak transcription	Fetal Kidney	kidney
8	chr12:1850800-1885200	Weak transcription	Right Ventricle	heart
9	chr12:1851800-1876600	Weak transcription	Stomach Mucosa	stomach
10	chr12:1857200-1892800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:1857200-1893400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:1862000-1894800	Weak transcription	Colonic Mucosa	Colon
13	chr12:1863000-1882000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:1864800-1879800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr12:1864800-1882200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:1864800-1885400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:1865000-1885200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:1866800-1875000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:1866800-1883000	Weak transcription	Fetal Heart	heart
20	chr12:1867000-1882000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:1867000-1882000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:1867000-1890200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:1867200-1878000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:1867200-1878400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:1867200-1878600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr12:1867200-1878800	Weak transcription	Fetal Intestine Small	intestine
27	chr12:1867200-1878800	Weak transcription	Lung	lung
28	chr12:1867200-1879200	Weak transcription	Gastric	stomach
29	chr12:1867200-1879200	Weak transcription	Left Ventricle	heart
30	chr12:1867200-1880200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:1867200-1880200	Weak transcription	Esophagus	oesophagus
32	chr12:1867200-1880200	Weak transcription	Fetal Stomach	stomach
33	chr12:1867200-1880400	Weak transcription	Fetal Intestine Large	intestine
34	chr12:1867200-1882000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:1867200-1882000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:1867200-1882000	Weak transcription	Thymus	Thymus
37	chr12:1867200-1883000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:1867200-1885600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:1867200-1888200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr12:1867200-1892600	Weak transcription	Spleen	Spleen
41	chr12:1867200-1893000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr12:1867600-1877200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:1867600-1880000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:1867600-1882000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr12:1867600-1882000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:1867600-1882000	Weak transcription	Placenta	Placenta
47	chr12:1867600-1886800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr12:1867800-1885000	Weak transcription	Fetal Muscle Leg	muscle
49	chr12:1868200-1882000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:1868200-1901800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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