Variant report

Variant	rs4377318
Chromosome Location	chr2:206346955-206346956
allele	G/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	ATF2	chr2:206346954-206347775	H1-hESC	embryonic stem cell:	n/a	chr2:206347531-206347545 chr2:206347533-206347544
2	RAD21	chr2:206346879-206347585	H1-hESC	embryonic stem cell:	n/a	n/a
3	SP1	chr2:206346940-206347620	H1-hESC	embryonic stem cell:	n/a	chr2:206347226-206347240 chr2:206347229-206347241 chr2:206347230-206347239 chr2:206347229-206347240 chr2:206347229-206347241 chr2:206347299-206347310
4	EP300	chr2:206346950-206347666	H1-hESC	embryonic stem cell:	n/a	chr2:206347192-206347206 chr2:206347005-206347019 chr2:206347611-206347625 chr2:206347194-206347208

Variant related genes	Relation type
PARD3B	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13419041	1.00[EUR][1000 genomes]
rs1473084	1.00[EUR][1000 genomes]
rs16837286	1.00[EUR][1000 genomes]
rs16837294	1.00[EUR][1000 genomes]
rs1974688	1.00[EUR][1000 genomes]
rs2160383	1.00[EUR][1000 genomes]
rs4625893	1.00[EUR][1000 genomes]
rs4675527	0.83[AFR][1000 genomes]
rs4675528	0.83[AFR][1000 genomes]
rs56827879	1.00[EUR][1000 genomes]
rs61665423	1.00[EUR][1000 genomes]
rs6725078	1.00[EUR][1000 genomes]
rs6756042	1.00[EUR][1000 genomes]
rs6756917	1.00[EUR][1000 genomes]
rs73062407	1.00[EUR][1000 genomes]
rs73062568	1.00[EUR][1000 genomes]
rs73065003	1.00[EUR][1000 genomes]
rs73065009	1.00[EUR][1000 genomes]
rs991689	1.00[EUR][1000 genomes]
rs9973667	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv584244	chr2:206247450-206378392	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv10162	chr2:206272092-206525287	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv19770	chr2:206283097-206671319	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv2751840	chr2:206314671-206512921	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1007821	chr2:206333129-206465451	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv584245	chr2:206346410-206464465	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv875731	chr2:206346586-206382030	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206340800-206347000	Weak transcription	Fetal Stomach	stomach
2	chr2:206341400-206347000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:206342600-206348600	Weak transcription	Fetal Heart	heart
4	chr2:206342800-206347400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:206342800-206347400	Weak transcription	HSMMtube	muscle
6	chr2:206342800-206347800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:206343000-206347000	Weak transcription	HSMM	muscle
8	chr2:206343000-206347600	Weak transcription	Ovary	ovary
9	chr2:206343600-206347600	Weak transcription	Fetal Lung	lung
10	chr2:206345400-206348000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:206345600-206350400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:206345800-206347200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:206346000-206349800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:206346000-206349800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:206346000-206350000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:206346200-206347000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:206346200-206347400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:206346200-206350000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:206346200-206365200	Weak transcription	Aorta	Aorta
20	chr2:206346400-206347000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:206346400-206348000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr2:206346600-206347800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:206346600-206349600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:206346800-206347200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr2:206346800-206349400	Enhancers	Brain Germinal Matrix	brain
26	chr2:206346800-206350200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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