Variant report

Variant	rs3809204
Chromosome Location	chr12:22198303-22198304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:22189309..22194681-chr12:22195009..22198971,6	K562	blood:
2	chr12:21809057..21812387-chr12:22198017..22201408,5	K562	blood:
3	chr12:22197898..22202531-chr12:22202616..22208309,9	MCF-7	breast:
4	chr12:21653863..21655490-chr12:22198033..22200548,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000004700	Chromatin interaction
ENSG00000111716	Chromatin interaction
ENSG00000111711	Chromatin interaction
ENSG00000111726	Chromatin interaction

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

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

rs_ID	r²[population]
rs10841929	0.90[ASN][1000 genomes]
rs10841931	0.90[ASN][1000 genomes]
rs10841932	0.90[ASN][1000 genomes]
rs10841933	0.90[ASN][1000 genomes]
rs10841934	0.92[ASN][1000 genomes]
rs10841935	0.88[ASN][1000 genomes]
rs10841936	0.85[ASN][1000 genomes]
rs11046275	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11046276	0.93[ASN][1000 genomes]
rs11046281	0.80[ASN][1000 genomes]
rs11046289	0.92[ASN][1000 genomes]
rs11046290	0.92[ASN][1000 genomes]
rs11046291	0.92[ASN][1000 genomes]
rs11046292	0.92[ASN][1000 genomes]
rs11046297	0.83[ASN][1000 genomes]
rs2058849	0.87[ASN][1000 genomes]
rs2111352	0.80[ASN][1000 genomes]
rs2216296	0.90[ASN][1000 genomes]
rs2418037	0.90[ASN][1000 genomes]
rs2418038	0.85[ASN][1000 genomes]
rs2955503	0.88[AMR][1000 genomes]
rs2955515	0.90[ASN][1000 genomes]
rs2970800	0.90[ASN][1000 genomes]
rs6487268	0.93[ASN][1000 genomes]
rs6487272	0.90[ASN][1000 genomes]
rs6487273	0.90[ASN][1000 genomes]
rs6487275	0.92[ASN][1000 genomes]
rs6487276	0.92[ASN][1000 genomes]
rs7135019	0.93[ASN][1000 genomes]
rs731355	0.88[ASN][1000 genomes]
rs7316741	0.87[ASN][1000 genomes]
rs7316854	0.90[ASN][1000 genomes]
rs759582	0.85[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:39 , 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	chr12:22196200-22199000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr12:22196400-22198600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr12:22196400-22199000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:22196400-22199000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr12:22196400-22199000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:22196400-22199000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:22196400-22199000	Weak transcription	NHLF	lung
16	chr12:22196400-22199200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:22196400-22199200	Weak transcription	HMEC	breast
18	chr12:22196400-22199200	Weak transcription	NH-A	brain
19	chr12:22196600-22198800	Weak transcription	Fetal Kidney	kidney
20	chr12:22196600-22199000	Weak transcription	Osteobl	bone
21	chr12:22196600-22199200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:22197200-22198600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:22197200-22198600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr12:22197200-22199000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:22197400-22198400	Enhancers	Colonic Mucosa	Colon
26	chr12:22197400-22198600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:22197400-22199000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:22197400-22199000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr12:22197400-22199000	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr12:22197400-22199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:22197600-22199000	Weak transcription	Pancreas	Pancrea
32	chr12:22197800-22199000	Weak transcription	A549	lung
33	chr12:22197800-22199200	Weak transcription	Stomach Mucosa	stomach
34	chr12:22198000-22198400	Weak transcription	Small Intestine	intestine
35	chr12:22198200-22198400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:22198200-22198400	Enhancers	Ovary	ovary
37	chr12:22198200-22198600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr12:22198200-22198600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr12:22198200-22198800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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