Variant report

Variant	rs73951133
Chromosome Location	chr2:74295919-74295920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74290589..74292591-chr2:74294386..74296993,2	K562	blood:
2	chr2:74209217..74211366-chr2:74294188..74296510,3	MCF-7	breast:
3	chr2:74289031..74291506-chr2:74295000..74297032,2	MCF-7	breast:
4	chr2:74295370..74297334-chr2:74306137..74308629,2	MCF-7	breast:
5	chr2:74214395..74216353-chr2:74293422..74296329,2	MCF-7	breast:
6	chr2:74211058..74214577-chr2:74295216..74297710,3	MCF-7	breast:
7	chr2:74258345..74260376-chr2:74295043..74298483,3	K562	blood:

Variant related genes	Relation type
ENSG00000255989	Chromatin interaction
ENSG00000235499	Chromatin interaction

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

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

rs_ID	r²[population]
rs56196018	1.00[AFR][1000 genomes]
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]
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:94 , 50 per page) page: 1 2

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	chr2:74269000-74300200	Weak transcription	Fetal Kidney	kidney
5	chr2:74269800-74328000	Weak transcription	Psoas Muscle	Psoas
6	chr2:74275200-74307800	Weak transcription	Aorta	Aorta
7	chr2:74275600-74304000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:74275800-74301400	Weak transcription	A549	lung
9	chr2:74275800-74301600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:74275800-74307800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:74275800-74317000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:74276200-74307600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:74276800-74300800	Weak transcription	Liver	Liver
14	chr2:74276800-74307400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:74277000-74307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:74277000-74308000	Weak transcription	Adipose Nuclei	Adipose
17	chr2:74277200-74301200	Weak transcription	HepG2	liver
18	chr2:74277200-74302600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:74277200-74307600	Weak transcription	Spleen	Spleen
20	chr2:74277200-74307600	Weak transcription	Hela-S3	cervix
21	chr2:74277600-74300200	Weak transcription	NHEK	skin
22	chr2:74277600-74306800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:74279200-74317000	Weak transcription	Small Intestine	intestine
24	chr2:74280800-74299200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:74280800-74301000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:74280800-74301600	Weak transcription	HSMMtube	muscle
27	chr2:74281200-74300600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:74281200-74306800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:74281400-74301400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:74281600-74299800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:74281600-74299800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:74281600-74302600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:74281600-74307600	Weak transcription	Pancreas	Pancrea
34	chr2:74281800-74300200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:74281800-74300400	Weak transcription	Fetal Thymus	thymus
36	chr2:74281800-74310200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:74282000-74319600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:74282200-74300800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:74282400-74296000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr2:74282600-74303200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr2:74284200-74307800	Weak transcription	Esophagus	oesophagus
42	chr2:74284600-74300200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr2:74285400-74299800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:74287000-74296600	Weak transcription	Fetal Intestine Small	intestine
45	chr2:74287000-74296800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:74287000-74301200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:74287000-74301600	Weak transcription	Stomach Mucosa	stomach
48	chr2:74287200-74298000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:74287400-74296600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr2:74287400-74296800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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