Variant report

Variant	rs2774291
Chromosome Location	chr1:114631167-114631168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:114623682..114625448-chr1:114629138..114631604,2	K562	blood:
2	chr1:114621187..114625954-chr1:114630932..114635442,7	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10858028	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11102727	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1330700	0.92[CEU][hapmap];0.81[CHD][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1574509	0.88[CHD][hapmap]
rs1604781	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1683252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1910486	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2432	0.88[CHD][hapmap]
rs2774282	0.84[ASN][1000 genomes]
rs2774285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2938339	0.85[CEU][hapmap]
rs2938353	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3007010	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3007012	0.85[EUR][1000 genomes]
rs3007013	0.87[EUR][1000 genomes]
rs4240537	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs514647	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs529171	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs548040	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6537808	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs654819	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6674121	1.00[JPT][hapmap]
rs9429734	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1849780	chr1:114577463-114663164	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2774291	DENND2C	cis	parietal	SCAN
rs2774291	CSDE1	cis	cerebellum	SCAN
rs2774291	ST7L	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114619200-114640200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:114625400-114631200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:114625400-114631800	Weak transcription	Brain Germinal Matrix	brain
4	chr1:114625400-114639600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:114625400-114639800	Weak transcription	Right Atrium	heart
6	chr1:114625600-114631600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:114626400-114631600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:114630000-114632600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:114630400-114631600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:114630400-114675800	Weak transcription	Pancreas	Pancrea
11	chr1:114630600-114631200	Genic enhancers	H9 Cell Line	embryonic stem cell
12	chr1:114630600-114632800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:114630800-114631400	Genic enhancers	Fetal Lung	lung
14	chr1:114630800-114631400	Bivalent Enhancer	K562	blood
15	chr1:114630800-114632200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:114630800-114632400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:114630800-114632400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:114630800-114632600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:114630800-114632600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr1:114630800-114632800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:114631000-114631200	Weak transcription	Fetal Brain Female	brain
22	chr1:114631000-114631400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:114631000-114631600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:114631000-114632400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr1:114631000-114632400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:114631000-114632400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:114631000-114632400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr1:114631000-114632800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:114631000-114633400	Enhancers	HMEC	breast

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