Variant report

Variant	rs56196018
Chromosome Location	chr2:74300251-74300252
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74296119..74298697-chr2:74300085..74304083,6	K562	blood:
2	chr2:74299880..74303029-chr2:74304930..74306783,3	K562	blood:
3	chr2:74211174..74212695-chr2:74297756..74300383,2	MCF-7	breast:
4	chr2:74299165..74300793-chr2:74302480..74304693,2	MCF-7	breast:
5	chr2:74211335..74216336-chr2:74300187..74305558,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235499	Chromatin interaction
ENSG00000255989	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56220427	1.00[AFR][1000 genomes]
rs57078518	1.00[AFR][1000 genomes]
rs60232103	1.00[AFR][1000 genomes]
rs60800561	1.00[AFR][1000 genomes]
rs61190810	1.00[AFR][1000 genomes]
rs72816199	1.00[AFR][1000 genomes]
rs73948286	1.00[AFR][1000 genomes]
rs73951129	1.00[AFR][1000 genomes]
rs73951131	1.00[AFR][1000 genomes]
rs73951132	1.00[AFR][1000 genomes]
rs73951133	1.00[AFR][1000 genomes]
rs73951134	1.00[AFR][1000 genomes]
rs73951135	1.00[AFR][1000 genomes]
rs73951136	1.00[AFR][1000 genomes]
rs73951137	0.81[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	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv874284	chr2:74283728-74348797	Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv874285	chr2:74283728-74355244	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74264800-74311000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:74265000-74300600	Weak transcription	Fetal Brain Male	brain
3	chr2:74265400-74315000	Weak transcription	HUVEC	blood vessel
4	chr2:74269800-74328000	Weak transcription	Psoas Muscle	Psoas
5	chr2:74275200-74307800	Weak transcription	Aorta	Aorta
6	chr2:74275600-74304000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:74275800-74301400	Weak transcription	A549	lung
8	chr2:74275800-74301600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:74275800-74307800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:74275800-74317000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:74276200-74307600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:74276800-74300800	Weak transcription	Liver	Liver
13	chr2:74276800-74307400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:74277000-74307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:74277000-74308000	Weak transcription	Adipose Nuclei	Adipose
16	chr2:74277200-74301200	Weak transcription	HepG2	liver
17	chr2:74277200-74302600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:74277200-74307600	Weak transcription	Spleen	Spleen
19	chr2:74277200-74307600	Weak transcription	Hela-S3	cervix
20	chr2:74277600-74306800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:74279200-74317000	Weak transcription	Small Intestine	intestine
22	chr2:74280800-74301000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:74280800-74301600	Weak transcription	HSMMtube	muscle
24	chr2:74281200-74300600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:74281200-74306800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:74281400-74301400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:74281600-74302600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:74281600-74307600	Weak transcription	Pancreas	Pancrea
29	chr2:74281800-74300400	Weak transcription	Fetal Thymus	thymus
30	chr2:74281800-74310200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:74282000-74319600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr2:74282200-74300800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:74282600-74303200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:74284200-74307800	Weak transcription	Esophagus	oesophagus
35	chr2:74287000-74301200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:74287000-74301600	Weak transcription	Stomach Mucosa	stomach
37	chr2:74287400-74300400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:74287400-74300400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr2:74287400-74300800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:74287400-74302600	Weak transcription	Thymus	Thymus
41	chr2:74287400-74306600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:74287400-74314000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:74287600-74300600	Weak transcription	Fetal Intestine Large	intestine
44	chr2:74287600-74300800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr2:74287600-74301000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:74287600-74310600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:74290600-74301000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:74291800-74307400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:74293400-74301200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:74294000-74303800	Weak transcription	Brain Substantia Nigra	brain

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