Variant report

Variant	rs11046278
Chromosome Location	chr12:22209302-22209303
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	FOS	chr12:22209101-22209413	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr12:22209136-22209367	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr12:22209091-22209382	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:22198261..22201239-chr12:22208109..22210711,2	K562	blood:
2	chr12:22198387..22201385-chr12:22209134..22211301,2	K562	blood:
3	chr12:22199607..22203065-chr12:22209223..22212376,4	MCF-7	breast:
4	chr12:22208985..22211876-chr12:22213406..22216314,4	K562	blood:

Variant related genes	Relation type
CMAS	TF binding region
ENSG00000111726	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10770879	1.00[AMR][1000 genomes]
rs11046283	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11046284	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11046285	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11046286	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11046287	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11046288	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12296561	1.00[AMR][1000 genomes]
rs12297555	1.00[AMR][1000 genomes]
rs12302161	1.00[AMR][1000 genomes]
rs12302990	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12306240	1.00[AMR][1000 genomes]
rs12307136	1.00[AMR][1000 genomes]
rs12309596	1.00[AMR][1000 genomes]
rs12315697	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318153	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1861713	1.00[AMR][1000 genomes]
rs4237917	1.00[AMR][1000 genomes]
rs4326848	1.00[AMR][1000 genomes]
rs57275562	1.00[AMR][1000 genomes]
rs57886357	1.00[AMR][1000 genomes]
rs7314865	1.00[AMR][1000 genomes]
rs73265986	1.00[AMR][1000 genomes]
rs73265990	1.00[AMR][1000 genomes]
rs73265997	1.00[AMR][1000 genomes]
rs73266000	1.00[AMR][1000 genomes]
rs73267912	1.00[AMR][1000 genomes]
rs73267999	1.00[AMR][1000 genomes]
rs73270009	1.00[AMR][1000 genomes]
rs73270012	1.00[AMR][1000 genomes]
rs7961937	1.00[AMR][1000 genomes]
rs7973525	1.00[AMR][1000 genomes]
rs7977201	1.00[AMR][1000 genomes]
rs9788008	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv1850259	chr12:22198865-22244741	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers 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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22200000-22209400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:22200000-22209400	Weak transcription	Spleen	Spleen
3	chr12:22200000-22214400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:22200000-22218200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:22200000-22220200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:22200000-22220200	Weak transcription	Lung	lung
7	chr12:22200200-22209400	Weak transcription	Left Ventricle	heart
8	chr12:22200200-22209400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:22200200-22215200	Weak transcription	HSMMtube	muscle
10	chr12:22200200-22215800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:22200200-22219600	Weak transcription	Aorta	Aorta
12	chr12:22200400-22216600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:22200400-22220400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:22200800-22209400	Weak transcription	Brain Germinal Matrix	brain
15	chr12:22200800-22209400	Weak transcription	Brain Substantia Nigra	brain
16	chr12:22200800-22209400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:22200800-22209400	Weak transcription	NHLF	lung
18	chr12:22200800-22210800	Weak transcription	Fetal Stomach	stomach
19	chr12:22200800-22220800	Weak transcription	Fetal Heart	heart
20	chr12:22201200-22209400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:22201200-22211400	Weak transcription	Hela-S3	cervix
22	chr12:22201400-22220400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr12:22201800-22219000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:22202000-22218000	Weak transcription	Psoas Muscle	Psoas
25	chr12:22202000-22219600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:22202000-22220200	Weak transcription	Fetal Brain Male	brain
27	chr12:22202200-22217000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:22202200-22218000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:22202200-22223800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:22203400-22209400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:22203400-22209600	Weak transcription	Colonic Mucosa	Colon
32	chr12:22203800-22209400	Weak transcription	Ovary	ovary
33	chr12:22203800-22220200	Weak transcription	Esophagus	oesophagus
34	chr12:22203800-22220200	Weak transcription	Small Intestine	intestine
35	chr12:22203800-22235200	Weak transcription	Gastric	stomach
36	chr12:22204000-22215400	Weak transcription	Brain Angular Gyrus	brain
37	chr12:22204400-22215400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:22204600-22219400	Weak transcription	Stomach Mucosa	stomach
39	chr12:22204600-22223400	Weak transcription	Pancreas	Pancrea
40	chr12:22205200-22222200	Weak transcription	Fetal Intestine Small	intestine
41	chr12:22207000-22218400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:22207000-22220200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:22207400-22209400	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:22207400-22210400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:22207600-22218800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr12:22207600-22219400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:22207800-22219000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:22208000-22210000	Strong transcription	Fetal Lung	lung
49	chr12:22208000-22210400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:22208000-22210400	Strong transcription	Colon Smooth Muscle	Colon

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