Variant report

Variant	rs73142089
Chromosome Location	chr5:94621308-94621309
allele	A/C
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	TCF7L2	chr5:94621109-94621686	HEK293	kidney:	n/a	chr5:94621311-94621320 chr5:94621308-94621324
2	TCF7L2	chr5:94620748-94621648	PANC-1	pancreas:	n/a	chr5:94621311-94621320 chr5:94621308-94621324
3	SIN3A	chr5:94619087-94621608	H1-hESC	embryonic stem cell:	n/a	chr5:94620964-94620977 chr5:94620698-94620711
4	TBP	chr5:94620844-94621370	H1-hESC	embryonic stem cell:	n/a	n/a
5	KAP1	chr5:94621097-94621662	U2OS	brain:	n/a	n/a
6	ZNF263	chr5:94618838-94621747	HEK293-T-REx	kidney:	n/a	chr5:94620353-94620362 chr5:94619772-94619793

Variant related genes	Relation type
MCTP1	TF binding region

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10072344	1.00[EUR][1000 genomes]
rs17084595	1.00[EUR][1000 genomes]
rs17084604	1.00[EUR][1000 genomes]
rs17084611	1.00[EUR][1000 genomes]
rs56903600	1.00[EUR][1000 genomes]
rs57134395	1.00[EUR][1000 genomes]
rs57371920	1.00[EUR][1000 genomes]
rs59340203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60330559	1.00[EUR][1000 genomes]
rs60791043	1.00[EUR][1000 genomes]
rs6882948	1.00[EUR][1000 genomes]
rs73142031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73142049	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73150636	1.00[EUR][1000 genomes]
rs73150668	1.00[EUR][1000 genomes]
rs73150676	1.00[EUR][1000 genomes]
rs73776380	1.00[EUR][1000 genomes]
rs73776395	1.00[EUR][1000 genomes]
rs73776396	1.00[EUR][1000 genomes]
rs7727956	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432752	chr5:94524244-94691044	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv3408932	chr5:94619021-94621569	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94618600-94621600	Active TSS	Brain Angular Gyrus	brain
2	chr5:94619000-94621400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
3	chr5:94619000-94621400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr5:94619200-94621400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:94619200-94621400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr5:94619200-94621800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr5:94619400-94621400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:94619400-94621400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:94619400-94621400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:94619400-94621400	Active TSS	Aorta	Aorta
11	chr5:94619400-94621600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:94619400-94621800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr5:94619600-94621400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:94619600-94621400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:94619600-94621400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:94619600-94621400	Bivalent/Poised TSS	HSMMtube	muscle
17	chr5:94619600-94621400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
18	chr5:94619600-94621600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:94620000-94621800	Active TSS	Right Atrium	heart
20	chr5:94620400-94621400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
21	chr5:94620400-94621400	Flanking Bivalent TSS/Enh	NHEK	skin
22	chr5:94620400-94621600	Bivalent Enhancer	Fetal Lung	lung
23	chr5:94620600-94621400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:94620600-94621400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr5:94620600-94621400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr5:94620600-94621400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
27	chr5:94620600-94621400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:94620600-94621400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
29	chr5:94620600-94621400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr5:94620600-94621400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
31	chr5:94620600-94621400	Flanking Bivalent TSS/Enh	Thymus	Thymus
32	chr5:94620600-94621400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
33	chr5:94620600-94621600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:94620600-94621600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:94620600-94621600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
36	chr5:94620600-94621600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
37	chr5:94620800-94621400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:94620800-94621400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:94620800-94621400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:94620800-94621400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
41	chr5:94620800-94621400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
42	chr5:94620800-94621400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:94620800-94621400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
44	chr5:94620800-94621400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
45	chr5:94620800-94621400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
46	chr5:94620800-94621400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
47	chr5:94620800-94621400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
48	chr5:94620800-94621400	Flanking Bivalent TSS/Enh	NHLF	lung
49	chr5:94620800-94621600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
50	chr5:94620800-94621600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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