Variant report

Variant	rs4669750
Chromosome Location	chr2:11696056-11696057
allele	C/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	SIN3AK20	chr2:11696032-11697143	MCF-7	breast:	n/a	n/a
2	POLR2A	chr2:11695393-11697274	MCF-7	breast:	n/a	n/a

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

Variant related genes	Relation type
GREB1	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13428862	0.85[CHB][hapmap];0.84[EUR][1000 genomes]
rs16857629	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16857640	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4313952	0.80[JPT][hapmap]
rs59563963	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6432211	0.80[JPT][hapmap]
rs6432213	0.80[JPT][hapmap]
rs6432218	0.80[EUR][1000 genomes]
rs6740248	0.80[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:30 , 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	chr2:11694200-11698400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:11694200-11698400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:11694600-11696200	Enhancers	Brain Substantia Nigra	brain
12	chr2:11694600-11698200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:11694800-11696200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:11694800-11696200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:11694800-11696200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:11694800-11696200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:11694800-11696200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:11694800-11696200	Active TSS	Ovary	ovary
19	chr2:11694800-11698000	Strong transcription	HepG2	liver
20	chr2:11694800-11699200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:11694800-11699600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:11694800-11755200	Weak transcription	Gastric	stomach
23	chr2:11695000-11696400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:11695400-11696600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:11695600-11696400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:11695800-11696200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:11695800-11696600	Enhancers	Brain Cingulate Gyrus	brain
28	chr2:11696000-11696400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
29	chr2:11696000-11697600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:11696000-11699800	Active TSS	Pancreatic Islets	Pancreatic Islet

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