Variant report

Variant	rs6936962
Chromosome Location	chr6:11537837-11537838
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	chr6:11537420-11539135	HL-60	blood:	n/a	n/a
2	POLR2A	chr6:11537659-11538150	HepG2	liver:	n/a	n/a
3	TAF1	chr6:11537423-11538080	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr6:11537429-11538217	A549	lung:	n/a	n/a
5	MAX	chr6:11537439-11538112	MCF-7	breast:	n/a	chr6:11537562-11537571 chr6:11537776-11537785
6	E2F6	chr6:11537646-11537965	A549	lung:	n/a	chr6:11537928-11537937 chr6:11537954-11537964
7	MAZ	chr6:11537395-11539160	GM12878	blood:	n/a	chr6:11537562-11537571 chr6:11537776-11537785
8	USF2	chr6:11537763-11538117	GM12878	blood:	n/a	chr6:11538021-11538037 chr6:11537950-11537966 chr6:11538081-11538097 chr6:11538013-11538029
9	EGR1	chr6:11537433-11538147	GM12878	blood:	n/a	chr6:11537561-11537572 chr6:11537560-11537573 chr6:11537928-11537937 chr6:11537969-11537979 chr6:11537561-11537572 chr6:11537929-11537938 chr6:11537559-11537574 chr6:11537560-11537573 chr6:11537967-11537980 chr6:11537561-11537571 chr6:11537560-11537573 chr6:11537559-11537573 chr6:11537561-11537570 chr6:11537561-11537571 chr6:11537560-11537567 chr6:11537966-11537981 chr6:11537870-11537879
10	NFIC	chr6:11537229-11537873	GM12878	blood:	n/a	n/a
11	NFYB	chr6:11537528-11538093	GM12878	blood:	n/a	n/a
12	MYC	chr6:11537504-11538243	NB4	blood:	n/a	chr6:11537562-11537571 chr6:11537776-11537785
13	CTBP2	chr6:11537146-11538336	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr6:11537761-11538206	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:11537678-11538200	A549	lung:	n/a	n/a
16	MXI1	chr6:11537464-11538504	IMR90	lung:	n/a	n/a
17	THAP1	chr6:11537598-11538006	K562	blood:	n/a	n/a
18	CHD2	chr6:11537603-11538243	HepG2	liver:	n/a	n/a
19	MAZ	chr6:11537467-11538131	Hela-S3	cervix:	n/a	chr6:11537562-11537571 chr6:11537776-11537785
20	MYBL2	chr6:11537423-11537976	HepG2	liver:	n/a	n/a
21	EGR1	chr6:11537175-11538128	HCT-116	colon:	n/a	chr6:11537561-11537572 chr6:11537560-11537573 chr6:11537928-11537937 chr6:11537969-11537979 chr6:11537561-11537572 chr6:11537929-11537938 chr6:11537559-11537574 chr6:11537560-11537573 chr6:11537967-11537980 chr6:11537561-11537571 chr6:11537560-11537573 chr6:11537559-11537573 chr6:11537561-11537570 chr6:11537561-11537571 chr6:11537560-11537567 chr6:11537966-11537981 chr6:11537870-11537879
22	ZBTB7A	chr6:11537486-11537909	HepG2	liver:	n/a	chr6:11537540-11537548
23	EP300	chr6:11537646-11537991	SK-N-SH_RA	brain:	n/a	chr6:11537881-11537897 chr6:11537963-11537979 chr6:11537951-11537967 chr6:11537910-11537926
24	MAX	chr6:11537487-11538158	K562	blood:	n/a	chr6:11537562-11537571 chr6:11537776-11537785
25	MAX	chr6:11537446-11538137	SK-N-SH	brain:	n/a	chr6:11537562-11537571 chr6:11537776-11537785
26	POLR2A	chr6:11537573-11538107	HCT-116	colon:	n/a	n/a
27	ZNF143	chr6:11537458-11538237	GM12878	blood:	n/a	chr6:11537555-11537573 chr6:11538203-11538221 chr6:11537704-11537714
28	MAX	chr6:11537484-11538136	Hela-S3	cervix:	n/a	chr6:11537562-11537571 chr6:11537776-11537785
29	MAX	chr6:11537464-11538127	K562	blood:	n/a	chr6:11537562-11537571 chr6:11537776-11537785
30	MAX	chr6:11537389-11538208	NB4	blood:	n/a	chr6:11537562-11537571 chr6:11537776-11537785
31	MXI1	chr6:11536790-11540132	SK-N-SH	brain:	n/a	n/a
32	EGR1	chr6:11537293-11538341	MCF-7	breast:	n/a	chr6:11537561-11537572 chr6:11537560-11537573 chr6:11537928-11537937 chr6:11537969-11537979 chr6:11537561-11537572 chr6:11537929-11537938 chr6:11538248-11538258 chr6:11537559-11537574 chr6:11537560-11537573 chr6:11537967-11537980 chr6:11537561-11537571 chr6:11537560-11537573 chr6:11537559-11537573 chr6:11537561-11537570 chr6:11538301-11538314 chr6:11537561-11537571 chr6:11537560-11537567 chr6:11537966-11537981 chr6:11537870-11537879
33	ELF1	chr6:11537330-11538710	GM12878	blood:	n/a	chr6:11538372-11538384
34	CEBPD	chr6:11537430-11538071	HepG2	liver:	n/a	n/a
35	TAF1	chr6:11537446-11538734	HepG2	liver:	n/a	n/a
36	FOXP2	chr6:11537509-11538218	PFSK-1	brain:	n/a	n/a
37	MTA3	chr6:11536884-11538309	GM12878	blood:	n/a	n/a
38	MYC	chr6:11537453-11538076	K562	blood:	n/a	chr6:11537562-11537571 chr6:11537776-11537785
39	YY1	chr6:11537435-11538223	HepG2	liver:	n/a	chr6:11538195-11538204 chr6:11537953-11537967 chr6:11538172-11538183 chr6:11537524-11537538 chr6:11537521-11537532
40	RFX5	chr6:11537532-11537943	GM12878	blood:	n/a	n/a
41	POLR2A	chr6:11537461-11538970	MCF-7	breast:	n/a	n/a
42	FOXP2	chr6:11537429-11537947	SK-N-MC	brain:	n/a	n/a
43	POLR2A	chr6:11537359-11538397	GM18951	blood:	n/a	n/a
44	POLR2A	chr6:11537319-11538232	GM12878	blood:	n/a	n/a
45	THAP1	chr6:11537663-11537865	K562	blood:	n/a	n/a
46	GATA2	chr6:11537078-11538141	SH-SY5Y	brain:	n/a	chr6:11537395-11537403
47	USF1	chr6:11537550-11537861	SK-N-SH_RA	brain:	n/a	n/a
48	POLR2A	chr6:11537387-11538339	HepG2	liver:	n/a	n/a
49	POLR2A	chr6:11537373-11538173	HepG2	liver:	n/a	n/a
50	CREB1	chr6:11537513-11538005	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:11044361..11045128-chr6:11537353..11538230,2	K562	blood:

Variant related genes	Relation type
TMEM170B	TF binding region
ENSG00000230314	Chromatin interaction
ENSG00000197977	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57324707	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6907207	0.84[EUR][1000 genomes];0.93[ASN][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	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv600989	chr6:11509323-11581990	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv3323084	chr6:11535666-11540364	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11536400-11540400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:11536800-11538200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:11536800-11539200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:11536800-11539200	Active TSS	Psoas Muscle	Psoas
5	chr6:11536800-11539400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr6:11536800-11539400	Active TSS	Fetal Intestine Small	intestine
7	chr6:11536800-11539600	Active TSS	A549	lung
8	chr6:11536800-11540000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr6:11536800-11540400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:11537000-11538000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:11537000-11538000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:11537000-11538400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr6:11537000-11538600	Active TSS	H1 Cell Line	embryonic stem cell
14	chr6:11537000-11538600	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr6:11537000-11538600	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr6:11537000-11538600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:11537000-11538800	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr6:11537000-11538800	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr6:11537000-11538800	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr6:11537000-11539000	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr6:11537000-11539000	Active TSS	Brain Hippocampus Middle	brain
22	chr6:11537000-11539000	Active TSS	Pancreas	Pancrea
23	chr6:11537000-11539000	Bivalent/Poised TSS	HepG2	liver
24	chr6:11537000-11539000	Active TSS	HSMM	muscle
25	chr6:11537000-11539200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:11537000-11539200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:11537000-11539200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:11537000-11539200	Active TSS	Brain Substantia Nigra	brain
29	chr6:11537000-11539200	Active TSS	Colonic Mucosa	Colon
30	chr6:11537000-11539200	Active TSS	Colon Smooth Muscle	Colon
31	chr6:11537000-11539200	Active TSS	Fetal Kidney	kidney
32	chr6:11537000-11539200	Active TSS	Left Ventricle	heart
33	chr6:11537000-11539200	Active TSS	Ovary	ovary
34	chr6:11537000-11539200	Active TSS	Right Ventricle	heart
35	chr6:11537000-11539200	Active TSS	NHDF-Ad	bronchial
36	chr6:11537000-11539400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:11537000-11539600	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr6:11537000-11540000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:11537000-11540000	Active TSS	Brain Anterior Caudate	brain
40	chr6:11537000-11540000	Active TSS	Right Atrium	heart
41	chr6:11537000-11540200	Active TSS	Brain Cingulate Gyrus	brain
42	chr6:11537000-11540400	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr6:11537000-11540600	Active TSS	Brain Angular Gyrus	brain
44	chr6:11537200-11538000	Active TSS	Brain Germinal Matrix	brain
45	chr6:11537200-11538400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr6:11537200-11538600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:11537200-11538600	Active TSS	Duodenum Mucosa	Duodenum
48	chr6:11537200-11538800	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr6:11537200-11538800	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr6:11537200-11538800	Active TSS	Stomach Smooth Muscle	stomach

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