Variant report

Variant	rs12498388
Chromosome Location	chr4:78092430-78092431
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:78091335..78093666-chr4:78093856..78096370,3	K562	blood:
2	chr4:78076120..78077897-chr4:78090608..78092538,2	K562	blood:
3	chr4:77995085..77997932-chr4:78090156..78092952,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118816	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10026646	0.91[ASN][1000 genomes]
rs11724432	0.80[ASN][1000 genomes]
rs28648488	0.89[ASN][1000 genomes]
rs4150106	0.91[ASN][1000 genomes]
rs4640692	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6849124	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6849534	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879500	chr4:78045960-78115334	Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78080000-78092800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:78080000-78093400	Weak transcription	Right Ventricle	heart
3	chr4:78080200-78094400	Weak transcription	Psoas Muscle	Psoas
4	chr4:78081200-78092600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:78081200-78092600	Strong transcription	Fetal Muscle Trunk	muscle
6	chr4:78081200-78093000	Strong transcription	Primary hematopoietic stem cells	blood
7	chr4:78081200-78093600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:78081400-78092600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr4:78083200-78093600	Weak transcription	Small Intestine	intestine
10	chr4:78083400-78093000	Weak transcription	Fetal Heart	heart
11	chr4:78083400-78093600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:78083400-78095600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:78083400-78095600	Weak transcription	HepG2	liver
14	chr4:78084600-78097800	Weak transcription	Esophagus	oesophagus
15	chr4:78084600-78102200	Weak transcription	Spleen	Spleen
16	chr4:78085800-78096600	Weak transcription	Brain Angular Gyrus	brain
17	chr4:78086200-78092800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:78086200-78095600	Weak transcription	Ovary	ovary
19	chr4:78086400-78094200	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:78086800-78093800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr4:78087000-78092800	Weak transcription	NHLF	lung
22	chr4:78087200-78093200	Strong transcription	Fetal Thymus	thymus
23	chr4:78087200-78094400	Strong transcription	Primary B cells from cord blood	blood
24	chr4:78087400-78100600	Weak transcription	Hela-S3	cervix
25	chr4:78087600-78093200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:78087600-78095000	Weak transcription	HUVEC	blood vessel
27	chr4:78087800-78092800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr4:78088600-78092600	Strong transcription	Thymus	Thymus
29	chr4:78088800-78093200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr4:78088800-78094000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr4:78088800-78096800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:78089000-78093800	Weak transcription	Colon Smooth Muscle	Colon
33	chr4:78089400-78093200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr4:78089400-78108000	Weak transcription	Left Ventricle	heart
35	chr4:78089600-78093800	Weak transcription	Liver	Liver
36	chr4:78090400-78109800	Weak transcription	Gastric	stomach
37	chr4:78090600-78094200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr4:78090800-78098000	Weak transcription	Fetal Brain Male	brain
39	chr4:78091000-78094000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:78091000-78094200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr4:78091000-78097600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr4:78091400-78092800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:78091400-78094000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:78091600-78093800	Weak transcription	Dnd41	blood
45	chr4:78091600-78098000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr4:78091800-78092600	Weak transcription	Osteobl	bone
47	chr4:78091800-78092800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:78091800-78092800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:78091800-78092800	Weak transcription	NHDF-Ad	bronchial
50	chr4:78091800-78093400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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