Variant report

Variant	rs2955500
Chromosome Location	chr12:22196258-22196259
allele	A/G/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	FOS	chr12:22195797-22196592	MCF10A-Er-Src	breast:	n/a	chr12:22195997-22196006
2	E2F4	chr12:22195865-22196337	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr12:22195922-22196559	A549	lung:	n/a	chr12:22196164-22196175
4	CEBPB	chr12:22195896-22196485	IMR90	lung:	n/a	chr12:22196164-22196175
5	NR3C1	chr12:22196100-22196505	A549	lung:	n/a	n/a
6	CEBPB	chr12:22196008-22196505	Hela-S3	cervix:	n/a	chr12:22196164-22196175
7	MAFK	chr12:22196026-22196403	IMR90	lung:	n/a	n/a
8	CEBPB	chr12:22195992-22196328	K562	blood:	n/a	chr12:22196164-22196175
9	TEAD4	chr12:22195912-22196314	K562	blood:	n/a	n/a
10	FOS	chr12:22195651-22196348	MCF10A-Er-Src	breast:	n/a	chr12:22195997-22196006
11	FOS	chr12:22195763-22196503	MCF10A-Er-Src	breast:	n/a	chr12:22195997-22196006
12	STAT3	chr12:22195891-22196299	MCF10A-Er-Src	breast:	n/a	n/a
13	RCOR1	chr12:22195657-22196507	IMR90	lung:	n/a	n/a
14	STAT3	chr12:22195862-22196319	MCF10A-Er-Src	breast:	n/a	n/a
15	MYC	chr12:22195865-22196477	MCF10A-Er-Src	breast:	n/a	n/a
16	MYC	chr12:22195884-22196427	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr12:22195542-22196549	MCF10A-Er-Src	breast:	n/a	chr12:22195997-22196006
18	STAT3	chr12:22195893-22196299	MCF10A-Er-Src	breast:	n/a	n/a
19	FOSL2	chr12:22195869-22196617	A549	lung:	n/a	chr12:22195997-22196006
20	POLR2A	chr12:22195804-22196346	MCF10A-Er-Src	breast:	n/a	n/a
21	CTCF	chr12:22196140-22196290	GM12864	blood:	n/a	n/a
22	CEBPB	chr12:22196030-22196504	HepG2	liver:	n/a	chr12:22196164-22196175
23	FOXA1	chr12:22196235-22196624	T-47D	breast:	n/a	chr12:22196595-22196607
24	STAT3	chr12:22195905-22196303	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:22189309..22194681-chr12:22195009..22198971,6	K562	blood:
2	chr12:22189100..22191552-chr12:22195163..22197054,2	K562	blood:

Variant related genes	Relation type
CMAS	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2955501	0.86[AFR][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:32 , 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	chr12:22194400-22196400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr12:22195000-22196400	Enhancers	HMEC	breast
6	chr12:22195000-22196600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:22195000-22196600	Enhancers	Osteobl	bone
8	chr12:22195000-22198600	Enhancers	K562	blood
9	chr12:22195000-22198800	Enhancers	HepG2	liver
10	chr12:22195000-22199000	Enhancers	Fetal Intestine Small	intestine
11	chr12:22195200-22196400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:22195200-22196400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:22195200-22197200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:22195600-22196400	Enhancers	NH-A	brain
15	chr12:22195600-22197200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:22195800-22196400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr12:22195800-22196800	Flanking Active TSS	A549	lung
18	chr12:22195800-22198600	Enhancers	Duodenum Mucosa	Duodenum
19	chr12:22196000-22196400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr12:22196000-22197400	Weak transcription	Colonic Mucosa	Colon
21	chr12:22196000-22199000	Enhancers	Fetal Intestine Large	intestine
22	chr12:22196200-22196400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:22196200-22196400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:22196200-22196400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:22196200-22196400	Enhancers	Pancreas	Pancrea
26	chr12:22196200-22196400	Enhancers	Small Intestine	intestine
27	chr12:22196200-22196400	Enhancers	NHLF	lung
28	chr12:22196200-22196600	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr12:22196200-22197200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:22196200-22197400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:22196200-22197800	Enhancers	Stomach Mucosa	stomach
32	chr12:22196200-22199000	Weak transcription	Monocytes-CD14+_RO01746	blood

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