Variant report

Variant	rs3809205
Chromosome Location	chr12:22197751-22197752
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	EGR1	chr12:22197674-22198007	K562	blood:	n/a	chr12:22197855-22197866
2	EGR1	chr12:22197703-22197925	K562	blood:	n/a	chr12:22197855-22197866
3	ZNF384	chr12:22197622-22197976	K562	blood:	n/a	n/a
4	GATA1	chr12:22197068-22197768	PBDE	blood:	n/a	chr12:22197682-22197690 chr12:22197487-22197494 chr12:22197487-22197496 chr12:22197486-22197496 chr12:22197488-22197505

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:22189309..22194681-chr12:22195009..22198971,6	K562	blood:

Variant related genes	Relation type
CMAS	TF binding region

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16924651	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap];0.84[ASN][1000 genomes]
rs28366051	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4762877	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs7968922	1.00[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.84[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	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv438196	chr12:22195202-22234058	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22188200-22199200	Weak transcription	Aorta	Aorta
2	chr12:22188400-22198800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:22192800-22199200	Weak transcription	Placenta	Placenta
4	chr12:22195000-22198600	Enhancers	K562	blood
5	chr12:22195000-22198800	Enhancers	HepG2	liver
6	chr12:22195000-22199000	Enhancers	Fetal Intestine Small	intestine
7	chr12:22195800-22198600	Enhancers	Duodenum Mucosa	Duodenum
8	chr12:22196000-22199000	Enhancers	Fetal Intestine Large	intestine
9	chr12:22196200-22197800	Enhancers	Stomach Mucosa	stomach
10	chr12:22196200-22199000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr12:22196400-22198200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:22196400-22198600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr12:22196400-22199000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:22196400-22199000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr12:22196400-22199000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:22196400-22199000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:22196400-22199000	Weak transcription	NHLF	lung
18	chr12:22196400-22199200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:22196400-22199200	Weak transcription	HMEC	breast
20	chr12:22196400-22199200	Weak transcription	NH-A	brain
21	chr12:22196600-22198800	Weak transcription	Fetal Kidney	kidney
22	chr12:22196600-22199000	Weak transcription	Osteobl	bone
23	chr12:22196600-22199200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:22196800-22197800	Enhancers	A549	lung
25	chr12:22197200-22198600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:22197200-22198600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr12:22197200-22199000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:22197400-22198000	Enhancers	Small Intestine	intestine
29	chr12:22197400-22198400	Enhancers	Colonic Mucosa	Colon
30	chr12:22197400-22198600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:22197400-22199000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:22197400-22199000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr12:22197400-22199000	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr12:22197400-22199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:22197600-22199000	Weak transcription	Pancreas	Pancrea

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