Variant report

Variant	rs12502833
Chromosome Location	chr4:56850412-56850413
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56845834..56848115-chr4:56848812..56851370,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17086170	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56815800-56875000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:56816200-56873400	Weak transcription	Pancreas	Pancrea
3	chr4:56816200-56884200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:56816200-56887800	Weak transcription	Gastric	stomach
5	chr4:56816400-56866000	Weak transcription	Spleen	Spleen
6	chr4:56816400-56890800	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:56816600-56851800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:56816600-56852000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:56816600-56865800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:56816600-56890600	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:56816600-56896400	Weak transcription	Fetal Heart	heart
12	chr4:56816800-56865800	Weak transcription	Small Intestine	intestine
13	chr4:56816800-56869800	Weak transcription	HepG2	liver
14	chr4:56817400-56885400	Weak transcription	NHDF-Ad	bronchial
15	chr4:56817800-56854600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:56818200-56853800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:56819000-56897400	Weak transcription	HSMMtube	muscle
18	chr4:56819200-56859600	Weak transcription	Fetal Kidney	kidney
19	chr4:56819200-56890600	Weak transcription	NHLF	lung
20	chr4:56820600-56892400	Weak transcription	Hela-S3	cervix
21	chr4:56822200-56873600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:56822400-56865800	Weak transcription	Psoas Muscle	Psoas
23	chr4:56823600-56893800	Weak transcription	HMEC	breast
24	chr4:56825200-56851600	Weak transcription	Lung	lung
25	chr4:56825200-56865800	Weak transcription	Aorta	Aorta
26	chr4:56825600-56870000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr4:56827800-56854200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr4:56828200-56854600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr4:56828200-56884200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:56828600-56851800	Weak transcription	Fetal Intestine Small	intestine
31	chr4:56828800-56852000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:56829200-56881400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:56829400-56865600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:56829600-56890600	Weak transcription	A549	lung
35	chr4:56831800-56855200	Strong transcription	Primary T cells from cord blood	blood
36	chr4:56832400-56865800	Weak transcription	Liver	Liver
37	chr4:56832600-56854800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:56833000-56877200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr4:56835400-56904800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:56837200-56905000	Weak transcription	Brain Substantia Nigra	brain
41	chr4:56837400-56854600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:56838000-56853400	Strong transcription	Primary B cells from cord blood	blood
43	chr4:56838200-56865400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:56839000-56853800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr4:56839400-56851600	Weak transcription	Fetal Stomach	stomach
46	chr4:56839800-56896600	Weak transcription	Brain Angular Gyrus	brain
47	chr4:56840000-56852000	Weak transcription	Brain Germinal Matrix	brain
48	chr4:56840000-56852000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr4:56840000-56865800	Weak transcription	Esophagus	oesophagus
50	chr4:56840200-56851600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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