Variant report

Variant	rs544049897
Chromosome Location	chr2:74283936-74283937
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74275740..74280453-chr2:74282056..74286021,5	K562	blood:
2	chr2:74283509..74286294-chr20:62151875..62153766,2	MCF-7	breast:
3	chr2:74230868..74232942-chr2:74282306..74284674,2	K562	blood:
4	chr2:74281718..74284526-chr2:74285973..74287556,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125534	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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:98 , 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	chr2:74266400-74287200	Weak transcription	HSMM	muscle
5	chr2:74269000-74300200	Weak transcription	Fetal Kidney	kidney
6	chr2:74269800-74328000	Weak transcription	Psoas Muscle	Psoas
7	chr2:74271600-74287600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:74272800-74285600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:74273000-74285000	Weak transcription	HMEC	breast
10	chr2:74273200-74293800	Weak transcription	Fetal Lung	lung
11	chr2:74274400-74286400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:74275200-74307800	Weak transcription	Aorta	Aorta
13	chr2:74275600-74285800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:74275600-74304000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:74275800-74301400	Weak transcription	A549	lung
16	chr2:74275800-74301600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:74275800-74307800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:74275800-74317000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:74276000-74285800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:74276000-74294800	Weak transcription	Right Ventricle	heart
21	chr2:74276200-74307600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:74276600-74284000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:74276600-74286000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:74276600-74293600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:74276600-74293800	Weak transcription	Fetal Brain Female	brain
26	chr2:74276600-74294800	Weak transcription	Lung	lung
27	chr2:74276800-74285200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:74276800-74286800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:74276800-74300800	Weak transcription	Liver	Liver
30	chr2:74276800-74307400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:74277000-74284000	Weak transcription	Esophagus	oesophagus
32	chr2:74277000-74287400	Weak transcription	Gastric	stomach
33	chr2:74277000-74291600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:74277000-74291800	Weak transcription	NHLF	lung
35	chr2:74277000-74307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:74277000-74308000	Weak transcription	Adipose Nuclei	Adipose
37	chr2:74277200-74301200	Weak transcription	HepG2	liver
38	chr2:74277200-74302600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:74277200-74307600	Weak transcription	Spleen	Spleen
40	chr2:74277200-74307600	Weak transcription	Hela-S3	cervix
41	chr2:74277400-74286800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr2:74277600-74300200	Weak transcription	NHEK	skin
43	chr2:74277600-74306800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr2:74277800-74286800	Weak transcription	Stomach Mucosa	stomach
45	chr2:74278400-74285200	Weak transcription	Fetal Intestine Large	intestine
46	chr2:74278400-74285800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:74278400-74285800	Weak transcription	Brain Germinal Matrix	brain
48	chr2:74278400-74286400	Weak transcription	Fetal Stomach	stomach
49	chr2:74279200-74293800	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:74279200-74317000	Weak transcription	Small Intestine	intestine

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