Variant report

Variant	rs59636084
Chromosome Location	chr2:11695109-11695110
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	GATA3	chr2:11695021-11695239	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr2:11695006-11695296	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11693244..11695539-chr2:11699023..11701494,2	K562	blood:
2	chr2:11694156..11696211-chr2:11713975..11716085,2	K562	blood:

Variant related genes	Relation type
GREB1	TF binding region
ENSG00000251718	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10427206	1.00[EUR][1000 genomes]
rs10520085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16857583	1.00[EUR][1000 genomes]
rs56714132	1.00[EUR][1000 genomes]
rs56805168	1.00[EUR][1000 genomes]
rs57108153	1.00[EUR][1000 genomes]
rs57932839	1.00[EUR][1000 genomes]
rs58950938	1.00[EUR][1000 genomes]
rs59489734	1.00[EUR][1000 genomes]
rs59936690	1.00[EUR][1000 genomes]
rs60215345	1.00[EUR][1000 genomes]
rs61039324	1.00[EUR][1000 genomes]
rs73180151	1.00[EUR][1000 genomes]
rs73187491	1.00[EUR][1000 genomes]
rs73187494	1.00[EUR][1000 genomes]
rs73189350	1.00[EUR][1000 genomes]
rs73189353	1.00[EUR][1000 genomes]
rs73189354	1.00[EUR][1000 genomes]
rs73189377	1.00[EUR][1000 genomes]
rs73915421	1.00[EUR][1000 genomes]
rs73915425	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73915426	1.00[EUR][1000 genomes]
rs73915428	1.00[EUR][1000 genomes]
rs73915429	1.00[EUR][1000 genomes]
rs73915430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73915431	1.00[EUR][1000 genomes]
rs73915432	1.00[EUR][1000 genomes]
rs73915433	1.00[EUR][1000 genomes]
rs73915434	1.00[EUR][1000 genomes]
rs73915435	1.00[EUR][1000 genomes]
rs73915443	1.00[EUR][1000 genomes]
rs73917236	1.00[EUR][1000 genomes]
rs73917248	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1814335	chr2:11689048-11718858	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 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	chr2:11678400-11757000	Weak transcription	Right Ventricle	heart
2	chr2:11683400-11697800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:11688600-11696400	Weak transcription	Pancreas	Pancrea
4	chr2:11690000-11711000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:11691000-11697600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:11691400-11696200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:11691400-11697600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:11691400-11699800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:11694200-11695800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:11694200-11698400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:11694200-11698400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:11694600-11696200	Enhancers	Brain Substantia Nigra	brain
13	chr2:11694600-11698200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:11694800-11695400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:11694800-11695800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:11694800-11696200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:11694800-11696200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:11694800-11696200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:11694800-11696200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:11694800-11696200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:11694800-11696200	Active TSS	Ovary	ovary
22	chr2:11694800-11698000	Strong transcription	HepG2	liver
23	chr2:11694800-11699200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:11694800-11699600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:11694800-11755200	Weak transcription	Gastric	stomach
26	chr2:11695000-11696400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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