Variant report

Variant	rs12210904
Chromosome Location	chr6:36098191-36098192
allele	A/C
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	chr6:36097665-36098499	MCF10A-Er-Src	breast:	n/a	n/a
2	TAF1	chr6:36097873-36099372	HepG2	liver:	n/a	n/a
3	ZBTB7A	chr6:36097829-36098527	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr6:36097896-36098361	ECC-1	luminal epithelium:	n/a	n/a
5	PML	chr6:36097789-36099232	GM12878	blood:	n/a	n/a
6	MYC	chr6:36098097-36098206	MCF-7	breast:	n/a	n/a
7	HEY1	chr6:36098067-36098481	HepG2	liver:	n/a	n/a
8	MAX	chr6:36097928-36099394	H1-hESC	embryonic stem cell:	n/a	n/a
9	MXI1	chr6:36098009-36099935	HepG2	liver:	n/a	chr6:36099510-36099519
10	EGR1	chr6:36098122-36098381	GM12878	blood:	n/a	chr6:36098245-36098259
11	E2F6	chr6:36097896-36099361	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr6:36098011-36099232	GM12878	blood:	n/a	n/a
13	MAX	chr6:36097848-36098484	ECC-1	luminal epithelium:	n/a	n/a
14	TCF12	chr6:36098044-36098339	GM12878	blood:	n/a	chr6:36098108-36098115
15	POLR2A	chr6:36097815-36098477	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:36097833-36099850	HepG2	liver:	n/a	n/a
17	ZEB1	chr6:36097958-36098315	GM12878	blood:	n/a	chr6:36098189-36098198 chr6:36098190-36098201
18	POLR2A	chr6:36097730-36099330	HCT-116	colon:	n/a	n/a
19	TCF7L2	chr6:36097984-36098811	HCT-116	colon:	n/a	n/a
20	E2F6	chr6:36097863-36098439	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr6:36098073-36098252	GM12878	blood:	n/a	n/a
22	FOXA1	chr6:36098134-36098887	HepG2	liver:	n/a	n/a
23	MAX	chr6:36097866-36100302	MCF-7	breast:	n/a	n/a
24	MYC	chr6:36098162-36098267	HepG2	liver:	n/a	n/a
25	POLR2A	chr6:36097829-36099147	HCT-116	colon:	n/a	n/a
26	POLR2A	chr6:36098000-36099863	GM15510	blood:	n/a	n/a
27	ZEB1	chr6:36097826-36098517	GM12878	blood:	n/a	chr6:36098189-36098198 chr6:36098190-36098201
28	POLR2A	chr6:36097890-36098470	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr6:36097835-36100139	HepG2	liver:	n/a	n/a
30	HEY1	chr6:36097516-36099900	HepG2	liver:	n/a	chr6:36098036-36098051
31	MAX	chr6:36097803-36100303	HepG2	liver:	n/a	n/a
32	MYC	chr6:36097814-36098224	MCF10A-Er-Src	breast:	n/a	n/a
33	MAZ	chr6:36098087-36099631	HepG2	liver:	n/a	n/a
34	MYBL2	chr6:36097735-36098235	HepG2	liver:	n/a	n/a
35	YY1	chr6:36098180-36098755	GM12878	blood:	n/a	chr6:36098618-36098630 chr6:36098334-36098345 chr6:36098620-36098628
36	MAZ	chr6:36098035-36099854	GM12878	blood:	n/a	n/a
37	HDAC2	chr6:36097789-36098878	HepG2	liver:	n/a	n/a
38	POLR2A	chr6:36097614-36099831	HCT-116	colon:	n/a	n/a
39	POLR2A	chr6:36097970-36100007	HepG2	liver:	n/a	n/a
40	POLR2A	chr6:36097998-36098240	HepG2	liver:	n/a	n/a
41	TCF12	chr6:36097926-36098550	ECC-1	luminal epithelium:	n/a	chr6:36098108-36098115
42	POLR2A	chr6:36097929-36098876	MCF-7	breast:	n/a	n/a
43	POLR2A	chr6:36097605-36098447	MCF10A-Er-Src	breast:	n/a	n/a
44	MAX	chr6:36098015-36099826	HepG2	liver:	n/a	n/a
45	MAX	chr6:36097881-36098522	H1-hESC	embryonic stem cell:	n/a	n/a
46	TAF1	chr6:36097943-36099394	HepG2	liver:	n/a	n/a
47	ZBTB7A	chr6:36097788-36098892	ECC-1	luminal epithelium:	n/a	chr6:36098565-36098574
48	TCF3	chr6:36097924-36098330	GM12878	blood:	n/a	chr6:36098205-36098219 chr6:36098110-36098123
49	ELF1	chr6:36097884-36099435	GM12878	blood:	n/a	chr6:36098139-36098148 chr6:36098331-36098343
50	MAX	chr6:36097796-36100286	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:36097672..36103046-chr6:36163327..36166048,5	MCF-7	breast:
2	chr6:36097129..36099054-chr6:36162391..36164603,2	K562	blood:
3	chr6:36098131..36102554-chr6:36163258..36166179,4	K562	blood:
4	chr6:36096617..36099142-chr6:36162886..36164936,2	MCF-7	breast:

Variant related genes	Relation type
MAPK13	TF binding region
ENSG00000096070	Chromatin interaction
ENSG00000246982	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10447375	0.80[AMR][1000 genomes]
rs10447396	0.80[AMR][1000 genomes]
rs1059227	0.88[AMR][1000 genomes]
rs2007683	0.87[AMR][1000 genomes]
rs2859135	0.84[AMR][1000 genomes]
rs2859136	0.83[AMR][1000 genomes]
rs2859137	0.84[AMR][1000 genomes]
rs2859141	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12210904	MAPK13	cis	Skin Sun Exposed Lower leg	GTEx
rs12210904	MAPK13	cis	Esophagus Mucosa	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36095600-36099000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:36096200-36099200	Weak transcription	HSMM	muscle
3	chr6:36096400-36099200	Weak transcription	K562	blood
4	chr6:36096600-36099200	Weak transcription	Hela-S3	cervix
5	chr6:36097400-36099800	Enhancers	HUVEC	blood vessel
6	chr6:36097600-36098200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:36097600-36098200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr6:36097600-36098200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr6:36097600-36098200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:36097600-36098200	Bivalent/Poised TSS	Fetal Brain Female	brain
11	chr6:36097600-36098400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:36097600-36098400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:36097600-36098400	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr6:36097600-36098600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr6:36097600-36098600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr6:36097600-36098600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr6:36097600-36098600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr6:36097600-36098600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:36097600-36098600	Active TSS	Pancreas	Pancrea
20	chr6:36097600-36099000	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr6:36097600-36099400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr6:36097600-36099800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr6:36097600-36100200	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr6:36097600-36101000	Enhancers	Fetal Heart	heart
25	chr6:36097800-36098200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr6:36097800-36098200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:36097800-36098200	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr6:36097800-36098200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr6:36097800-36098200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr6:36097800-36098200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:36097800-36098200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:36097800-36098200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
33	chr6:36097800-36098200	Flanking Active TSS	Colonic Mucosa	Colon
34	chr6:36097800-36098200	Active TSS	Right Atrium	heart
35	chr6:36097800-36098200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
36	chr6:36097800-36098200	Flanking Active TSS	Thymus	Thymus
37	chr6:36097800-36098200	Flanking Active TSS	HMEC	breast
38	chr6:36097800-36098200	Enhancers	HSMMtube	muscle
39	chr6:36097800-36098200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr6:36097800-36098200	Flanking Active TSS	NHLF	lung
41	chr6:36097800-36098400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:36097800-36098400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
43	chr6:36097800-36098600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:36097800-36098600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
45	chr6:36097800-36098600	Active TSS	Esophagus	oesophagus
46	chr6:36097800-36098600	Bivalent/Poised TSS	Fetal Stomach	stomach
47	chr6:36097800-36098600	Bivalent/Poised TSS	Psoas Muscle	Psoas
48	chr6:36097800-36098600	Active TSS	Rectal Smooth Muscle	rectum
49	chr6:36097800-36098800	Active TSS	Fetal Intestine Small	intestine
50	chr6:36097800-36099200	Active TSS	H9 Cell Line	embryonic stem cell

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