Variant report

Variant	rs4513455
Chromosome Location	chr3:69254988-69254989
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr3:69254967-69256024	GM12878	blood:	n/a	n/a
2	MAFF	chr3:69254891-69255084	HepG2	liver:	n/a	chr3:69254967-69254985
3	MAFK	chr3:69254857-69255118	HepG2	liver:	n/a	chr3:69254969-69254985 chr3:69254969-69254980 chr3:69254969-69254984 chr3:69254969-69254980
4	RUNX3	chr3:69254969-69255393	GM12878	blood:	n/a	n/a
5	MAFK	chr3:69254813-69255122	HepG2	liver:	n/a	chr3:69254969-69254985 chr3:69254969-69254980 chr3:69254969-69254984 chr3:69254969-69254980

Variant related genes	Relation type
FRMD4B	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10049245	1.00[MEX][hapmap]
rs10779991	1.00[MEX][hapmap]
rs12054011	1.00[CHB][hapmap]
rs1483896	1.00[MEX][hapmap]
rs4428184	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs4447768	1.00[MEX][hapmap]
rs4645139	1.00[MEX][hapmap]
rs4855370	1.00[MEX][hapmap]
rs59324628	1.00[ASN][1000 genomes]
rs59937996	0.83[ASN][1000 genomes]
rs6549191	1.00[MEX][hapmap]
rs6776230	1.00[CHB][hapmap]
rs6777899	1.00[ASN][1000 genomes]
rs6809451	1.00[CHB][hapmap]
rs72930245	0.92[ASN][1000 genomes]
rs72930257	1.00[ASN][1000 genomes]
rs72932116	1.00[ASN][1000 genomes]
rs9310145	1.00[MEX][hapmap]
rs9818314	1.00[CHB][hapmap]
rs9820998	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9868107	1.00[CHB][hapmap]

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	esv3398378	chr3:69240573-69271936	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69232000-69275600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:69242400-69281600	Weak transcription	Brain Germinal Matrix	brain
3	chr3:69242600-69268800	Weak transcription	Spleen	Spleen
4	chr3:69244000-69264800	Weak transcription	Fetal Brain Female	brain
5	chr3:69244200-69261800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:69246200-69266800	Weak transcription	HSMM	muscle
7	chr3:69248200-69257000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:69249000-69255400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr3:69249000-69263000	Weak transcription	Lung	lung
10	chr3:69249400-69257600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:69250000-69255200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr3:69250000-69258400	Weak transcription	Fetal Thymus	thymus
13	chr3:69250000-69261600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:69250000-69263000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr3:69250000-69269200	Weak transcription	Thymus	Thymus
16	chr3:69250000-69272400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr3:69250000-69281600	Weak transcription	Esophagus	oesophagus
18	chr3:69250200-69255400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr3:69250200-69255600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr3:69250200-69257600	Weak transcription	Fetal Lung	lung
21	chr3:69250200-69262000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr3:69250200-69262800	Weak transcription	Fetal Stomach	stomach
23	chr3:69250200-69263200	Weak transcription	Dnd41	blood
24	chr3:69250200-69268800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:69250200-69268800	Weak transcription	Ovary	ovary
26	chr3:69250200-69286000	Weak transcription	Colonic Mucosa	Colon
27	chr3:69250400-69260200	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:69250400-69264800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:69250400-69268400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:69250400-69280000	Weak transcription	Fetal Kidney	kidney
31	chr3:69252600-69255000	Enhancers	Fetal Heart	heart
32	chr3:69253000-69255400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr3:69253000-69266400	Weak transcription	Small Intestine	intestine
34	chr3:69253000-69297600	Weak transcription	Gastric	stomach
35	chr3:69253200-69255200	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr3:69253400-69255200	Strong transcription	Adipose Nuclei	Adipose
37	chr3:69253400-69259800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:69253400-69260600	Weak transcription	Fetal Intestine Small	intestine
39	chr3:69253400-69277400	Weak transcription	Left Ventricle	heart
40	chr3:69253600-69255000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:69253600-69255800	Enhancers	GM12878-XiMat	blood
42	chr3:69253600-69256400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:69253600-69257000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:69253600-69258200	Weak transcription	Liver	Liver
45	chr3:69253600-69258600	Weak transcription	Hela-S3	cervix
46	chr3:69253600-69260400	Weak transcription	Stomach Mucosa	stomach
47	chr3:69253600-69260800	Weak transcription	Brain Anterior Caudate	brain
48	chr3:69253600-69263400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:69253600-69266600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr3:69253600-69267600	Weak transcription	Placenta	Placenta

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