Variant report

Variant	rs11061971
Chromosome Location	chr12:1863728-1863729
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1856328..1858670-chr12:1861251..1864008,2	K562	blood:
2	chr12:1856721..1858693-chr12:1863172..1864680,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1044471	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10735003	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10773980	0.88[ASN][1000 genomes]
rs10773988	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10773991	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10848548	0.85[ASN][1000 genomes]
rs10848557	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10848561	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10848563	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10848565	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10848567	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10848571	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614639	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12316367	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2068485	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2068491	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2108642	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2190556	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2286383	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2286384	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3759374	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140992	0.91[ASN][1000 genomes]
rs4765843	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765844	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766415	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489326	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7294668	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296521	0.89[ASN][1000 genomes]
rs7955261	0.87[ASN][1000 genomes]
rs7974422	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974924	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976827	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7978362	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7978783	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9300298	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9739162	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9805049	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
7	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
8	esv3416278	chr12:1863291-1865339	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1816200-1866400	Weak transcription	Esophagus	oesophagus
2	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
3	chr12:1823000-1866600	Weak transcription	Gastric	stomach
4	chr12:1824000-1866600	Weak transcription	HSMM	muscle
5	chr12:1826000-1885400	Weak transcription	NH-A	brain
6	chr12:1845600-1885200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:1847600-1863800	Weak transcription	Ovary	ovary
8	chr12:1847600-1885200	Weak transcription	Right Atrium	heart
9	chr12:1849800-1868400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:1849800-1868800	Weak transcription	Pancreas	Pancrea
11	chr12:1849800-1905600	Weak transcription	Small Intestine	intestine
12	chr12:1850000-1866600	Weak transcription	Fetal Lung	lung
13	chr12:1850200-1865800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:1850200-1885200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:1850400-1870400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:1850400-1904800	Weak transcription	Fetal Kidney	kidney
17	chr12:1850800-1885200	Weak transcription	Right Ventricle	heart
18	chr12:1851000-1866400	Weak transcription	NHLF	lung
19	chr12:1851400-1866600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:1851600-1866400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:1851800-1876600	Weak transcription	Stomach Mucosa	stomach
22	chr12:1854400-1864400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:1854600-1870400	Weak transcription	HSMMtube	muscle
24	chr12:1856000-1866400	Weak transcription	HUVEC	blood vessel
25	chr12:1856600-1872000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:1857000-1863800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr12:1857200-1864400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:1857200-1864600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:1857200-1865800	Weak transcription	Primary B cells from cord blood	blood
30	chr12:1857200-1866400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:1857200-1870000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:1857200-1892800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:1857200-1893400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:1857400-1864200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:1857400-1864400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr12:1857400-1868000	Weak transcription	Fetal Brain Female	brain
37	chr12:1858200-1864400	Weak transcription	A549	lung
38	chr12:1858200-1866200	Weak transcription	Hela-S3	cervix
39	chr12:1858200-1866400	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:1858200-1866400	Weak transcription	Lung	lung
41	chr12:1858200-1866400	Weak transcription	Spleen	Spleen
42	chr12:1858400-1868000	Weak transcription	Osteobl	bone
43	chr12:1858400-1869800	Weak transcription	NHDF-Ad	bronchial
44	chr12:1858600-1863800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:1858600-1864400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr12:1858600-1865800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:1859200-1866600	Weak transcription	Psoas Muscle	Psoas
48	chr12:1860400-1869600	Weak transcription	K562	blood
49	chr12:1861200-1865800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:1861400-1866200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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