Variant report

Variant	rs62113306
Chromosome Location	chr2:11885941-11885942
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr2:11884708-11887762	HepG2	liver:	n/a	chr2:11886898-11886908 chr2:11886778-11886787
2	POLR2A	chr2:11885604-11885954	K562	blood:	n/a	n/a
3	TCF7L2	chr2:11885779-11887411	HEK293	kidney:	n/a	n/a
4	MXI1	chr2:11885917-11888799	SK-N-SH	brain:	n/a	n/a
5	ZMIZ1	chr2:11885935-11886070	K562	blood:	n/a	n/a
6	RCOR1	chr2:11885844-11887559	K562	blood:	n/a	n/a
7	ARID3A	chr2:11885849-11885951	K562	blood:	n/a	n/a
8	RCOR1	chr2:11885903-11886155	K562	blood:	n/a	n/a
9	MAZ	chr2:11885735-11887744	IMR90	lung:	n/a	chr2:11886898-11886908 chr2:11886778-11886787
10	RAD21	chr2:11883135-11888795	SK-N-SH	brain:	n/a	chr2:11888754-11888767 chr2:11883562-11883572 chr2:11883630-11883644

No.	Distal block	Cell Line	Cell type
1	chr2:11604833..11608003-chr2:11882353..11886330,4	K562	blood:
2	chr2:11885343..11888558-chr2:11916972..11921085,4	K562	blood:
3	chr2:11678361..11681033-chr2:11884649..11887386,2	MCF-7	breast:

Variant related genes	Relation type
LPIN1	TF binding region
ENSG00000230790	TF binding region
ENSG00000264010	Chromatin interaction
ENSG00000169016	Chromatin interaction
ENSG00000134324	Chromatin interaction
ENSG00000196208	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1006538	0.88[ASN][1000 genomes]
rs10169802	0.97[ASN][1000 genomes]
rs10185333	0.82[ASN][1000 genomes]
rs10191952	0.81[ASN][1000 genomes]
rs10191977	0.81[ASN][1000 genomes]
rs10192566	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10205312	0.87[ASN][1000 genomes]
rs10205400	0.86[ASN][1000 genomes]
rs10207506	0.96[ASN][1000 genomes]
rs10208679	0.96[ASN][1000 genomes]
rs10209969	0.88[ASN][1000 genomes]
rs11676086	0.96[ASN][1000 genomes]
rs11676369	0.82[ASN][1000 genomes]
rs11693809	0.97[ASN][1000 genomes]
rs11897144	0.88[ASN][1000 genomes]
rs13407101	0.90[ASN][1000 genomes]
rs13409154	0.96[ASN][1000 genomes]
rs13412852	0.86[ASN][1000 genomes]
rs1469952	0.82[ASN][1000 genomes]
rs2278513	0.82[ASN][1000 genomes]
rs2358041	0.86[ASN][1000 genomes]
rs2358042	0.86[ASN][1000 genomes]
rs4076055	0.97[ASN][1000 genomes]
rs4315495	0.96[ASN][1000 genomes]
rs4669778	0.84[ASN][1000 genomes]
rs6717910	0.81[ASN][1000 genomes]
rs6731096	1.00[ASN][1000 genomes]
rs72773994	0.88[ASN][1000 genomes]
rs7595221	0.91[ASN][1000 genomes]
rs873358	0.96[ASN][1000 genomes]
rs893342	0.89[ASN][1000 genomes]
rs893345	0.82[ASN][1000 genomes]
rs893349	0.83[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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv580973	chr2:11864946-11898931	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv580974	chr2:11867841-11898931	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11882400-11886200	Enhancers	NHDF-Ad	bronchial
2	chr2:11882600-11886800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:11882800-11886000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:11882800-11886200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:11882800-11886400	Enhancers	Fetal Thymus	thymus
6	chr2:11882800-11886600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:11883000-11886200	Enhancers	Fetal Muscle Leg	muscle
8	chr2:11883200-11886000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:11883400-11886200	Enhancers	Fetal Intestine Large	intestine
10	chr2:11883400-11886200	Enhancers	Fetal Intestine Small	intestine
11	chr2:11883400-11886400	Enhancers	Fetal Heart	heart
12	chr2:11883400-11886400	Enhancers	Stomach Mucosa	stomach
13	chr2:11883400-11887000	Enhancers	Placenta	Placenta
14	chr2:11883600-11886200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr2:11883600-11886200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:11883600-11886200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:11883600-11886400	Enhancers	Primary B cells from peripheral blood	blood
18	chr2:11883600-11886400	Enhancers	Ovary	ovary
19	chr2:11883600-11886400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr2:11883600-11886800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:11883800-11886000	Enhancers	Brain Angular Gyrus	brain
22	chr2:11883800-11886200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr2:11883800-11886200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr2:11883800-11886200	Enhancers	Colon Smooth Muscle	Colon
25	chr2:11883800-11886200	Enhancers	Right Ventricle	heart
26	chr2:11883800-11886400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:11883800-11886400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr2:11883800-11886400	Enhancers	Left Ventricle	heart
29	chr2:11883800-11886800	Enhancers	Lung	lung
30	chr2:11883800-11886800	Enhancers	Spleen	Spleen
31	chr2:11884000-11886200	Enhancers	Primary hematopoietic stem cells	blood
32	chr2:11884000-11886200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:11884200-11886200	Enhancers	Primary B cells from cord blood	blood
34	chr2:11884400-11886200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:11884400-11886200	Enhancers	Liver	Liver
36	chr2:11884400-11886200	Enhancers	Fetal Lung	lung
37	chr2:11884400-11886600	Enhancers	Small Intestine	intestine
38	chr2:11884600-11886200	Enhancers	Primary T cells fromperipheralblood	blood
39	chr2:11884600-11886200	Enhancers	Brain Substantia Nigra	brain
40	chr2:11884600-11886200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr2:11884600-11886200	Enhancers	Right Atrium	heart
42	chr2:11884600-11886800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:11884800-11886000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:11884800-11886000	Weak transcription	Colonic Mucosa	Colon
45	chr2:11884800-11886000	Enhancers	GM12878-XiMat	blood
46	chr2:11884800-11886000	Enhancers	NHEK	skin
47	chr2:11884800-11886200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr2:11884800-11886200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr2:11884800-11886200	Enhancers	Adipose Nuclei	Adipose
50	chr2:11884800-11886200	Enhancers	Brain Inferior Temporal Lobe	brain

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