Variant report

Variant	rs1370547
Chromosome Location	chr2:11961690-11961691
allele	G/T
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	RCOR1	chr2:11961663-11961785	K562	blood:	n/a	n/a

Variant related genes	Relation type
LPIN1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10495584	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11524	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs2577259	0.97[ASN][1000 genomes]
rs2716609	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2716610	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2716611	0.98[ASN][1000 genomes]
rs56658728	0.90[ASN][1000 genomes]
rs57450916	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59217232	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59466442	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60665865	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72493341	0.81[EUR][1000 genomes]
rs73189038	0.81[AMR][1000 genomes]
rs73189040	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73189043	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73189045	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73191082	1.00[ASN][1000 genomes]
rs73191098	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 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	chr2:11919400-11961800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:11919600-11968400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:11919800-11963200	Strong transcription	Primary B cells from peripheral blood	blood
4	chr2:11919800-11967600	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:11919800-11968400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:11919800-11968800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr2:11925200-11964800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:11925200-11968600	Strong transcription	NHLF	lung
9	chr2:11925800-11968600	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr2:11937000-11968800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:11941200-11968600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:11943000-11962800	Strong transcription	NHEK	skin
13	chr2:11944800-11965400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:11946200-11969200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:11946600-11961800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:11948000-11961800	Weak transcription	GM12878-XiMat	blood
17	chr2:11950200-11967200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:11950200-11968400	Strong transcription	Primary hematopoietic stem cells	blood
19	chr2:11951600-11962800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:11951600-11968600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:11951800-11964400	Weak transcription	Fetal Heart	heart
22	chr2:11955400-11962200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:11955400-11965000	Strong transcription	HMEC	breast
24	chr2:11956200-11961800	Weak transcription	Pancreas	Pancrea
25	chr2:11956200-11962800	Weak transcription	Esophagus	oesophagus
26	chr2:11956200-11969400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:11956400-11961800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:11956600-11964600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:11956600-11964800	Weak transcription	Hela-S3	cervix
30	chr2:11956600-11966000	Weak transcription	A549	lung
31	chr2:11956600-11968400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:11956600-11969400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:11956600-11969600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:11956800-11961800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:11956800-11962800	Weak transcription	Osteobl	bone
36	chr2:11956800-11964400	Weak transcription	Brain Angular Gyrus	brain
37	chr2:11957000-11964600	Weak transcription	Fetal Intestine Large	intestine
38	chr2:11957200-11964600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:11957400-11961800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:11957600-11961800	Weak transcription	Fetal Brain Female	brain
41	chr2:11957600-11963000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:11957800-11961800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:11958200-11969200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:11959000-11962600	Strong transcription	Fetal Muscle Leg	muscle
45	chr2:11959000-11965800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr2:11959200-11963400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr2:11959200-11963400	Strong transcription	Fetal Thymus	thymus
48	chr2:11959200-11963400	Strong transcription	K562	blood
49	chr2:11959200-11966200	Strong transcription	Dnd41	blood
50	chr2:11959200-11967200	Strong transcription	HUVEC	blood vessel

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