Variant report

Variant	rs73936805
Chromosome Location	chr2:55237906-55237907
allele	A/C
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	chr2:55237771-55238389	U87	brain:	n/a	n/a
2	POLR2A	chr2:55222320-55241658	K562	blood:	n/a	n/a
3	CEBPB	chr2:55237880-55238477	A549	lung:	n/a	chr2:55238224-55238235

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55236989..55239116-chr2:55240470..55242602,2	K562	blood:

Variant related genes	Relation type
RTN4	TF binding region
ENSG00000200086	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11892015	0.86[AFR][1000 genomes]
rs11899295	0.94[AFR][1000 genomes]
rs11903052	1.00[AMR][1000 genomes]
rs17046564	0.92[AFR][1000 genomes]
rs17046576	1.00[AMR][1000 genomes]
rs55697927	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55879444	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56290934	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58482670	0.92[AFR][1000 genomes]
rs6730793	1.00[AMR][1000 genomes]
rs73936512	0.84[AFR][1000 genomes]
rs73936517	0.94[AFR][1000 genomes]
rs73936518	0.84[AFR][1000 genomes]
rs73936520	1.00[AMR][1000 genomes]
rs73936812	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73936813	0.92[AFR][1000 genomes]
rs73936817	0.85[AMR][1000 genomes]
rs73936818	0.81[AFR][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	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv874155	chr2:55205262-55307646	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55203800-55258400	Weak transcription	Esophagus	oesophagus
2	chr2:55227600-55239000	Weak transcription	Hela-S3	cervix
3	chr2:55231000-55238200	Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr2:55232200-55244800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:55233200-55240400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:55234800-55244800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:55234800-55246000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:55235400-55238000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr2:55235600-55240600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:55236000-55238400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:55236200-55238000	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr2:55236200-55239600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr2:55236400-55238000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:55236400-55238800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr2:55236600-55238000	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr2:55236600-55238000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr2:55236600-55238000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr2:55236600-55238000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr2:55236600-55238200	Enhancers	Brain Germinal Matrix	brain
20	chr2:55236600-55241400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:55236800-55238000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:55236800-55238000	Flanking Active TSS	A549	lung
23	chr2:55236800-55238000	Flanking Active TSS	HMEC	breast
24	chr2:55236800-55238600	Enhancers	HepG2	liver
25	chr2:55236800-55240800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:55236800-55243400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr2:55237000-55238000	Enhancers	Fetal Brain Female	brain
28	chr2:55237000-55243600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:55237200-55238400	Flanking Active TSS	Liver	Liver
30	chr2:55237200-55238400	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr2:55237200-55239600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr2:55237200-55241600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:55237400-55238000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr2:55237400-55238200	Weak transcription	Placenta	Placenta
35	chr2:55237400-55238200	Weak transcription	Stomach Mucosa	stomach
36	chr2:55237400-55238400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:55237400-55239400	Enhancers	Primary B cells from peripheral blood	blood
38	chr2:55237400-55240800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:55237400-55242800	Enhancers	HSMMtube	muscle
40	chr2:55237600-55238000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr2:55237600-55238000	Enhancers	Stomach Smooth Muscle	stomach
42	chr2:55237600-55238200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:55237600-55238200	Weak transcription	Fetal Intestine Small	intestine
44	chr2:55237600-55238200	Weak transcription	Small Intestine	intestine
45	chr2:55237600-55238400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:55237600-55238400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:55237600-55238400	Enhancers	Psoas Muscle	Psoas
48	chr2:55237600-55238400	Enhancers	Right Atrium	heart
49	chr2:55237600-55238600	Enhancers	Fetal Kidney	kidney
50	chr2:55237600-55238600	Weak transcription	HUVEC	blood vessel

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