Variant report

Variant	rs7296521
Chromosome Location	chr12:1802988-1802989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1772246..1773869-chr12:1801718..1803350,2	MCF-7	breast:
2	chr12:1769488..1776078-chr12:1798561..1806450,20	K562	blood:
3	chr12:918309..920299-chr12:1801890..1803898,2	K562	blood:
4	chr12:1800837..1805465-chr12:1806386..1808744,4	MCF-7	breast:
5	chr12:1801029..1803898-chr12:1875286..1877234,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271500	Chromatin interaction
ENSG00000266043	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1044471	0.83[ASN][1000 genomes]
rs10735003	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10744551	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10773980	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10773988	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10773989	0.83[AMR][1000 genomes]
rs10773991	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10848548	0.94[ASN][1000 genomes]
rs10848550	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10848557	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10848561	0.85[ASN][1000 genomes]
rs10848563	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10848565	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10848567	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10848571	0.89[ASN][1000 genomes]
rs11061971	0.89[ASN][1000 genomes]
rs12316367	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2068491	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2108642	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2190556	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2286383	0.85[ASN][1000 genomes]
rs2286384	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3759374	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4140992	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4765843	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4765844	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4766415	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6489326	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7138924	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7294668	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7315046	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7316218	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7955261	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7962394	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7974422	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7974924	0.89[ASN][1000 genomes]
rs7976827	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7978362	0.85[ASN][1000 genomes]
rs7978783	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9300298	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9739162	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9805049	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1799400-1803000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr12:1801000-1805600	Weak transcription	Pancreas	Pancrea
3	chr12:1801000-1815800	Weak transcription	Esophagus	oesophagus
4	chr12:1801000-1815800	Weak transcription	Gastric	stomach
5	chr12:1801200-1803200	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:1801200-1803600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:1801200-1807200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:1801400-1803600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:1801400-1804000	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:1801400-1806400	Weak transcription	Fetal Lung	lung
11	chr12:1801400-1806600	Weak transcription	Aorta	Aorta
12	chr12:1801600-1804000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr12:1801600-1804800	Weak transcription	Osteobl	bone
14	chr12:1801600-1805200	Weak transcription	Ovary	ovary
15	chr12:1801600-1805400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:1801600-1806000	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:1801600-1806600	Weak transcription	Fetal Brain Male	brain
18	chr12:1801600-1807600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:1801600-1814200	Weak transcription	HSMM	muscle
20	chr12:1801600-1815200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:1801600-1823400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:1801600-1827800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:1801800-1803000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:1801800-1804200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:1801800-1804200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:1801800-1804800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:1801800-1804800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:1801800-1805000	Weak transcription	Fetal Kidney	kidney
29	chr12:1801800-1805200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:1801800-1805200	Weak transcription	Small Intestine	intestine
31	chr12:1801800-1805200	Weak transcription	NHDF-Ad	bronchial
32	chr12:1801800-1805400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:1801800-1805400	Weak transcription	Fetal Heart	heart
34	chr12:1801800-1805600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:1801800-1805800	Weak transcription	NHLF	lung
36	chr12:1801800-1806000	Weak transcription	Primary T cells from cord blood	blood
37	chr12:1801800-1807800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:1801800-1808200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:1801800-1811400	Weak transcription	NH-A	brain
40	chr12:1801800-1813400	Weak transcription	A549	lung
41	chr12:1801800-1823800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:1801800-1828200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:1801800-1830800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:1802000-1803600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr12:1802200-1803000	Enhancers	Primary B cells from cord blood	blood
46	chr12:1802200-1803000	Weak transcription	Brain Substantia Nigra	brain
47	chr12:1802200-1803200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:1802200-1803200	Weak transcription	Hela-S3	cervix
49	chr12:1802200-1803600	Genic enhancers	Dnd41	blood
50	chr12:1802200-1803800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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