Variant report

Variant	rs6432210
Chromosome Location	chr2:11693648-11693649
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	POLR2A	chr2:11693148-11694987	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	chr2:11692018..11694220-chr2:11712327..11714726,2	K562	blood:

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

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10495583	0.88[CEU][hapmap]
rs4313952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4669751	0.94[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs5020877	0.88[CEU][hapmap]
rs6432211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6432212	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6432213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6432214	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6432215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6432216	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6432219	0.86[ASN][1000 genomes]
rs6749404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73191479	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7565567	0.94[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs930310	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes];0.99[ASN][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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6432210	IAH1	cis	cerebellum	SCAN
rs6432210	GREB1	cis	parietal	SCAN
rs6432210	MBOAT2	cis	cerebellum	SCAN

Chromatin state (count:27 , 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	chr2:11684800-11693800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:11685400-11693800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:11687000-11694600	Weak transcription	Brain Substantia Nigra	brain
6	chr2:11688600-11693800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:11688600-11696400	Weak transcription	Pancreas	Pancrea
8	chr2:11690000-11711000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:11691000-11693800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:11691000-11693800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:11691000-11694000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:11691000-11694800	Genic enhancers	HepG2	liver
13	chr2:11691000-11697600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:11691200-11694000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:11691400-11693800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:11691400-11696200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:11691400-11697600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:11691400-11699800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:11692400-11693800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:11692800-11693800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:11693200-11695000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:11693400-11693800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:11693400-11694000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:11693600-11693800	Active TSS	Ovary	ovary
25	chr2:11693600-11694000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:11693600-11694200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:11693600-11694800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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