Variant report

Variant	rs572529866
Chromosome Location	chr2:206347159-206347160
allele	A/G
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	MAX	chr2:206347072-206347927	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr2:206347117-206347865	H1-hESC	embryonic stem cell:	n/a	chr2:206347531-206347545 chr2:206347533-206347544
3	ATF2	chr2:206346954-206347775	H1-hESC	embryonic stem cell:	n/a	chr2:206347531-206347545 chr2:206347533-206347544
4	RAD21	chr2:206346879-206347585	H1-hESC	embryonic stem cell:	n/a	n/a
5	POU5F1	chr2:206347149-206347560	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr2:206347123-206347835	H1-hESC	embryonic stem cell:	n/a	n/a
7	CREB1	chr2:206347041-206347841	H1-hESC	embryonic stem cell:	n/a	chr2:206347532-206347545
8	HDAC2	chr2:206347024-206347518	H1-hESC	embryonic stem cell:	n/a	n/a
9	TCF12	chr2:206347019-206347757	H1-hESC	embryonic stem cell:	n/a	chr2:206347699-206347707
10	CTBP2	chr2:206346991-206347614	H1-hESC	embryonic stem cell:	n/a	n/a
11	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
12	EGR1	chr2:206347097-206347518	H1-hESC	embryonic stem cell:	n/a	chr2:206347231-206347244 chr2:206347230-206347245 chr2:206347231-206347244 chr2:206347233-206347243
13	SP1	chr2:206347059-206347685	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
14	JUND	chr2:206347104-206347776	H1-hESC	embryonic stem cell:	n/a	chr2:206347534-206347543
15	TCF12	chr2:206347026-206347785	H1-hESC	embryonic stem cell:	n/a	chr2:206347699-206347707
16	EP300	chr2:206346950-206347666	H1-hESC	embryonic stem cell:	n/a	chr2:206347192-206347206 chr2:206347005-206347019 chr2:206347611-206347625 chr2:206347194-206347208
17	TBP	chr2:206347014-206347612	H1-hESC	embryonic stem cell:	n/a	n/a
18	YY1	chr2:206347063-206347708	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr2:206346991-206347849	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
PARD3B	TF binding region

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

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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206342600-206348600	Weak transcription	Fetal Heart	heart
2	chr2:206342800-206347400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:206342800-206347400	Weak transcription	HSMMtube	muscle
4	chr2:206342800-206347800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:206343000-206347600	Weak transcription	Ovary	ovary
6	chr2:206343600-206347600	Weak transcription	Fetal Lung	lung
7	chr2:206345400-206348000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:206345600-206350400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:206345800-206347200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:206346000-206349800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:206346000-206349800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:206346000-206350000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr2:206346200-206347400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:206346200-206350000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:206346200-206365200	Weak transcription	Aorta	Aorta
16	chr2:206346400-206348000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:206346600-206347800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:206346600-206349600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:206346800-206347200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr2:206346800-206349400	Enhancers	Brain Germinal Matrix	brain
21	chr2:206346800-206350200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:206347000-206347200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr2:206347000-206347200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr2:206347000-206347800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:206347000-206348200	Enhancers	HSMM	muscle
26	chr2:206347000-206350200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:206347000-206350200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:206347000-206350600	Enhancers	Fetal Muscle Leg	muscle
29	chr2:206347000-206350800	Enhancers	Fetal Stomach	stomach

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