Variant report

Variant	rs59953529
Chromosome Location	chr5:35657077-35657078
allele	C/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	E2F6	chr5:35656729-35657178	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAZ	chr5:35656793-35657247	IMR90	lung:	n/a	n/a
3	JUND	chr5:35656808-35657145	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr5:35656911-35657207	H1-hESC	embryonic stem cell:	n/a	n/a
5	TEAD4	chr5:35656840-35657263	H1-hESC	embryonic stem cell:	n/a	chr5:35657032-35657041
6	TEAD4	chr5:35656912-35657100	H1-hESC	embryonic stem cell:	n/a	chr5:35657032-35657041
7	REST	chr5:35656880-35657534	H1-neurons	neurons:	n/a	n/a
8	MAX	chr5:35656785-35657129	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr5:35656920-35657412	H1-neurons	neurons:	n/a	n/a
10	MAX	chr5:35656878-35657144	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SPEF2	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs34852821	1.00[AFR][1000 genomes]
rs58946348	1.00[AFR][1000 genomes]
rs60514226	1.00[AFR][1000 genomes]
rs60935063	1.00[AFR][1000 genomes]
rs61309270	1.00[AFR][1000 genomes]
rs73078271	1.00[AFR][1000 genomes]
rs73078274	1.00[AFR][1000 genomes]
rs73078295	1.00[AFR][1000 genomes]
rs73080219	1.00[AFR][1000 genomes]
rs73080251	1.00[AFR][1000 genomes]
rs73080257	1.00[AFR][1000 genomes]
rs73080290	1.00[AFR][1000 genomes]
rs73080294	1.00[AFR][1000 genomes]
rs73084356	1.00[AFR][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	nsv525477	chr5:35530905-35792990	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35618600-35678000	Weak transcription	Left Ventricle	heart
2	chr5:35630400-35662400	Weak transcription	Aorta	Aorta
3	chr5:35630600-35663400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:35630600-35707600	Weak transcription	Pancreas	Pancrea
5	chr5:35634800-35658200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr5:35634800-35658200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr5:35634800-35673200	Weak transcription	Brain Anterior Caudate	brain
8	chr5:35635600-35660400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:35635600-35665400	Weak transcription	Fetal Intestine Small	intestine
10	chr5:35635800-35664000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:35639400-35664600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:35640600-35664000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:35642600-35673000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:35645200-35662200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:35645200-35663800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:35645200-35673600	Weak transcription	Fetal Kidney	kidney
17	chr5:35648200-35663400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:35651200-35673000	Weak transcription	Ovary	ovary
19	chr5:35651600-35658200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:35651600-35664600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr5:35651800-35663400	Weak transcription	Dnd41	blood
22	chr5:35652000-35665000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr5:35654200-35658000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:35655400-35657200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:35655600-35657200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr5:35655800-35657200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:35656000-35661800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:35656200-35657400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:35656200-35657600	Enhancers	HSMMtube	muscle
30	chr5:35656200-35658000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:35656400-35663800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr5:35656400-35670600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:35656600-35657200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:35656600-35657200	Enhancers	Osteobl	bone
35	chr5:35656600-35657400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:35656600-35657400	Enhancers	Fetal Heart	heart
37	chr5:35656600-35657600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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