Variant report

Variant	rs12191295
Chromosome Location	chr6:36098333-36098334
allele	C/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	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	HEY1	chr6:36098067-36098481	HepG2	liver:	n/a	n/a
7	MAX	chr6:36097928-36099394	H1-hESC	embryonic stem cell:	n/a	n/a
8	TBP	chr6:36098313-36099869	HepG2	liver:	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	POLR2A	chr6:36098307-36099151	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr6:36097896-36099361	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr6:36098011-36099232	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:36098275-36099121	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr6:36097848-36098484	ECC-1	luminal epithelium:	n/a	n/a
16	TCF12	chr6:36098044-36098339	GM12878	blood:	n/a	chr6:36098108-36098115
17	POLR2A	chr6:36097815-36098477	HepG2	liver:	n/a	n/a
18	POLR2A	chr6:36097833-36099850	HepG2	liver:	n/a	n/a
19	FOXA2	chr6:36098282-36098464	HepG2	liver:	n/a	n/a
20	POLR2A	chr6:36097730-36099330	HCT-116	colon:	n/a	n/a
21	ZBTB7A	chr6:36098277-36098804	HepG2	liver:	n/a	chr6:36098565-36098574
22	TCF7L2	chr6:36097984-36098811	HCT-116	colon:	n/a	n/a
23	E2F6	chr6:36097863-36098439	H1-hESC	embryonic stem cell:	n/a	n/a
24	FOXA1	chr6:36098134-36098887	HepG2	liver:	n/a	n/a
25	MAX	chr6:36097866-36100302	MCF-7	breast:	n/a	n/a
26	ZBTB7A	chr6:36098315-36098654	HepG2	liver:	n/a	chr6:36098565-36098574
27	POLR2A	chr6:36097829-36099147	HCT-116	colon:	n/a	n/a
28	POLR2A	chr6:36098000-36099863	GM15510	blood:	n/a	n/a
29	ZEB1	chr6:36097826-36098517	GM12878	blood:	n/a	chr6:36098189-36098198 chr6:36098190-36098201
30	POLR2A	chr6:36097890-36098470	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr6:36097835-36100139	HepG2	liver:	n/a	n/a
32	HEY1	chr6:36097516-36099900	HepG2	liver:	n/a	chr6:36098036-36098051
33	POLR2A	chr6:36098279-36099680	HepG2	liver:	n/a	n/a
34	MAX	chr6:36097803-36100303	HepG2	liver:	n/a	n/a
35	NFIC	chr6:36098253-36098897	HepG2	liver:	n/a	n/a
36	MAZ	chr6:36098087-36099631	HepG2	liver:	n/a	n/a
37	YY1	chr6:36098180-36098755	GM12878	blood:	n/a	chr6:36098618-36098630 chr6:36098334-36098345 chr6:36098620-36098628
38	MAZ	chr6:36098035-36099854	GM12878	blood:	n/a	n/a
39	HDAC2	chr6:36097789-36098878	HepG2	liver:	n/a	n/a
40	POLR2A	chr6:36097614-36099831	HCT-116	colon:	n/a	n/a
41	POLR2A	chr6:36097970-36100007	HepG2	liver:	n/a	n/a
42	TCF12	chr6:36097926-36098550	ECC-1	luminal epithelium:	n/a	chr6:36098108-36098115
43	POLR2A	chr6:36097929-36098876	MCF-7	breast:	n/a	n/a
44	POLR2A	chr6:36097605-36098447	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr6:36098242-36098478	HepG2	liver:	n/a	n/a
46	MAX	chr6:36098015-36099826	HepG2	liver:	n/a	n/a
47	MAX	chr6:36097881-36098522	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr6:36098266-36099259	GM12878	blood:	n/a	n/a
49	TAF1	chr6:36097943-36099394	HepG2	liver:	n/a	n/a
50	YY1	chr6:36098315-36098800	GM12892	blood:	n/a	chr6:36098618-36098630 chr6:36098334-36098345 chr6:36098620-36098628

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: 0)

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

rs_ID	r²[population]
rs2252430	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815808	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815810	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2859130	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711434	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457880	0.93[EUR][1000 genomes]
rs6457883	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927278	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][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

No data

Chromatin state (count:116 , 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	chr6:36097600-36098400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:36097600-36098400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:36097600-36098400	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr6:36097600-36098600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr6:36097600-36098600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr6:36097600-36098600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr6:36097600-36098600	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr6:36097600-36098600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:36097600-36098600	Active TSS	Pancreas	Pancrea
15	chr6:36097600-36099000	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr6:36097600-36099400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr6:36097600-36099800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr6:36097600-36100200	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr6:36097600-36101000	Enhancers	Fetal Heart	heart
20	chr6:36097800-36098400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:36097800-36098400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
22	chr6:36097800-36098600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:36097800-36098600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
24	chr6:36097800-36098600	Active TSS	Esophagus	oesophagus
25	chr6:36097800-36098600	Bivalent/Poised TSS	Fetal Stomach	stomach
26	chr6:36097800-36098600	Bivalent/Poised TSS	Psoas Muscle	Psoas
27	chr6:36097800-36098600	Active TSS	Rectal Smooth Muscle	rectum
28	chr6:36097800-36098800	Active TSS	Fetal Intestine Small	intestine
29	chr6:36097800-36099200	Active TSS	H9 Cell Line	embryonic stem cell
30	chr6:36097800-36099200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:36097800-36099200	Active TSS	Brain Angular Gyrus	brain
32	chr6:36097800-36099200	Active TSS	Brain Anterior Caudate	brain
33	chr6:36097800-36099200	Active TSS	Fetal Intestine Large	intestine
34	chr6:36097800-36099400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr6:36097800-36099400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:36097800-36099600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:36098000-36098400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:36098000-36098400	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr6:36098000-36098400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:36098000-36098400	Active TSS	Adipose Nuclei	Adipose
41	chr6:36098000-36098400	Active TSS	Right Ventricle	heart
42	chr6:36098000-36098400	Enhancers	NHDF-Ad	bronchial
43	chr6:36098000-36098600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:36098000-36098600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:36098000-36098600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:36098000-36098600	Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr6:36098000-36098600	Active TSS	Primary B cells from peripheral blood	blood
48	chr6:36098000-36098600	Active TSS	Primary T cells fromperipheralblood	blood
49	chr6:36098000-36098600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:36098000-36098600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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