Variant report

Variant	rs2288327
Chromosome Location	chr2:179411665-179411666
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	POLR2A	chr2:179410631-179414899	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179411316..179413406-chr2:179423053..179424886,2	K562	blood:
2	chr2:179410068..179413369-chr2:179416784..179418965,3	K562	blood:

Variant related genes	Relation type
ENSG00000270277	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12614435	0.87[EUR][1000 genomes]
rs1429094	0.83[EUR][1000 genomes]
rs16866418	0.85[EUR][1000 genomes]
rs2288571	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2303838	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35112591	0.82[EUR][1000 genomes]
rs35504893	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs3731746	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6723399	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs890578	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv834468	chr2:179351116-179533625	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv2757841	chr2:179409072-179608242	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv2759103	chr2:179409072-179608242	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr2:179388800-179411800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:179388800-179417600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:179388800-179429400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:179388800-179441800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:179388800-179448800	Weak transcription	Small Intestine	intestine
6	chr2:179388800-179495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:179389200-179412600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:179389400-179412800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:179389400-179413000	Weak transcription	Fetal Brain Male	brain
10	chr2:179389400-179413400	Weak transcription	NH-A	brain
11	chr2:179389400-179416800	Weak transcription	Stomach Mucosa	stomach
12	chr2:179389400-179417200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:179389400-179417200	Weak transcription	NHDF-Ad	bronchial
14	chr2:179389400-179417200	Weak transcription	NHLF	lung
15	chr2:179389400-179428200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:179390600-179426400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:179391200-179419200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:179393800-179439800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:179394800-179412600	Strong transcription	Primary T cells from cord blood	blood
20	chr2:179394800-179413400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:179394800-179417600	Strong transcription	HSMMtube	muscle
22	chr2:179394800-179421600	Strong transcription	Left Ventricle	heart
23	chr2:179395400-179414200	Strong transcription	Fetal Thymus	thymus
24	chr2:179395400-179423000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr2:179395600-179414200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:179395600-179421600	Strong transcription	Fetal Heart	heart
27	chr2:179395800-179411800	Strong transcription	Fetal Muscle Leg	muscle
28	chr2:179395800-179414000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:179395800-179414200	Strong transcription	Dnd41	blood
30	chr2:179396000-179413800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:179396000-179414600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:179396000-179415800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr2:179396000-179417600	Strong transcription	HSMM	muscle
34	chr2:179396000-179422400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr2:179396000-179445400	Strong transcription	Right Ventricle	heart
36	chr2:179396200-179414200	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:179396200-179414800	Strong transcription	Pancreas	Pancrea
38	chr2:179396200-179419800	Strong transcription	Fetal Intestine Large	intestine
39	chr2:179396200-179420200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:179396400-179412600	Strong transcription	Primary hematopoietic stem cells	blood
41	chr2:179396400-179419800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:179396400-179420000	Strong transcription	Primary B cells from cord blood	blood
43	chr2:179396600-179412600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:179396600-179432400	Weak transcription	Fetal Kidney	kidney
45	chr2:179397200-179412400	Weak transcription	Brain Germinal Matrix	brain
46	chr2:179397200-179412600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr2:179397200-179417600	Weak transcription	A549	lung
48	chr2:179397800-179417600	Weak transcription	NHEK	skin
49	chr2:179398200-179417600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:179399200-179418800	Weak transcription	Fetal Brain Female	brain

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