Variant report

Variant	rs6917342
Chromosome Location	chr6:132272664-132272665
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	TAF1	chr6:132271152-132272777	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF12	chr6:132272396-132272822	H1-hESC	embryonic stem cell:	n/a	n/a
3	FOSL2	chr6:132272232-132272847	HepG2	liver:	n/a	chr6:132272521-132272530 chr6:132272566-132272575
4	POLR2A	chr6:132269199-132272798	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF263	chr6:132271036-132272883	HEK293-T-REx	kidney:	n/a	chr6:132271863-132271872
6	EP300	chr6:132270958-132272840	HepG2	liver:	n/a	n/a
7	FOXA1	chr6:132272290-132272964	HepG2	liver:	n/a	n/a
8	FOXP2	chr6:132271391-132272694	PFSK-1	brain:	n/a	n/a
9	RXRA	chr6:132272191-132273000	SK-N-SH	brain:	n/a	n/a
10	REST	chr6:132272240-132272771	SK-N-SH	brain:	n/a	chr6:132272559-132272579
11	TCF7L2	chr6:132272332-132272813	Hela-S3	cervix:	n/a	n/a
12	TCF12	chr6:132272341-132272832	A549	lung:	n/a	n/a
13	REST	chr6:132272294-132272684	PFSK-1	brain:	n/a	chr6:132272559-132272579
14	NR2F2	chr6:132272249-132273005	HepG2	liver:	n/a	n/a
15	TCF12	chr6:132272206-132273023	A549	lung:	n/a	n/a
16	EP300	chr6:132272202-132272914	HepG2	liver:	n/a	chr6:132272837-132272851
17	SMC3	chr6:132272436-132273051	HepG2	liver:	n/a	n/a
18	CEBPB	chr6:132272344-132272813	Hela-S3	cervix:	n/a	n/a
19	SIN3AK20	chr6:132272198-132272776	H1-hESC	embryonic stem cell:	n/a	n/a
20	MXI1	chr6:132271025-132272841	HepG2	liver:	n/a	n/a
21	MAX	chr6:132270871-132272894	HepG2	liver:	n/a	n/a
22	POLR2A	chr6:132271078-132272775	Gliobla	brain:	n/a	n/a
23	TCF12	chr6:132272255-132272821	HepG2	liver:	n/a	n/a
24	FOXA1	chr6:132272243-132272926	HepG2	liver:	n/a	n/a
25	FOXA1	chr6:132270789-132272907	HepG2	liver:	n/a	n/a
26	EP300	chr6:132272158-132273112	ECC-1	luminal epithelium:	n/a	chr6:132272837-132272851 chr6:132272922-132272931
27	REST	chr6:132272348-132272887	A549	lung:	n/a	chr6:132272559-132272579
28	HDAC2	chr6:132272224-132272957	HepG2	liver:	n/a	chr6:132272768-132272782 chr6:132272559-132272578
29	STAT3	chr6:132272483-132272836	Hela-S3	cervix:	n/a	chr6:132272748-132272755 chr6:132272625-132272633
30	GATA3	chr6:132272355-132272856	T-47D	breast:	n/a	n/a
31	RAD21	chr6:132272371-132272745	SK-N-SH_RA	brain:	n/a	n/a
32	ATF2	chr6:132272150-132273035	H1-hESC	embryonic stem cell:	n/a	n/a
33	RCOR1	chr6:132270977-132272926	HepG2	liver:	n/a	n/a
34	MEF2A	chr6:132272158-132272990	SK-N-SH	brain:	n/a	n/a
35	NR2F2	chr6:132269786-132273124	HepG2	liver:	n/a	n/a
36	FOS	chr6:132272593-132272715	MCF10A-Er-Src	breast:	n/a	n/a
37	SIN3AK20	chr6:132271728-132272795	PANC-1	pancreas:	n/a	n/a
38	FOS	chr6:132272543-132272779	MCF10A-Er-Src	breast:	n/a	chr6:132272566-132272575
39	POLR2A	chr6:132271077-132272674	A549	lung:	n/a	n/a
40	POLR2A	chr6:132270867-132272680	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr6:132272268-132272824	MCF-7	breast:	n/a	n/a
42	POLR2A	chr6:132267033-132272723	HepG2	liver:	n/a	n/a
43	SRF	chr6:132272324-132273085	ECC-1	luminal epithelium:	n/a	chr6:132272886-132272899
44	PBX3	chr6:132270683-132272961	SK-N-SH	brain:	n/a	n/a
45	HEY1	chr6:132268004-132272823	HepG2	liver:	n/a	n/a
46	TEAD4	chr6:132272430-132272825	MCF-7	breast:	n/a	n/a
47	ETS1	chr6:132272393-132272790	A549	lung:	n/a	n/a
48	BRCA1	chr6:132272452-132273013	Hela-S3	cervix:	n/a	n/a
49	TAF1	chr6:132272402-132272690	MCF-7	breast:	n/a	n/a
50	RXRA	chr6:132272426-132272858	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:132269655-132282174..6:132454814-132459405	GM12878	blood:
2	6:132269655-132282174..6:132434977-132438109	Hela-S3	cervix:
3	6:132269655-132282174..6:132402790-132406656	H1-hESC	embryonic stem cell:	embryo
4	6:132269655-132282174..6:132480387-132483283	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
CTGF	TF binding region
ENSG00000228495	Chromatin interaction
ENSG00000265669	Chromatin interaction
ENSG00000236166	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17060944	1.00[EUR][1000 genomes]
rs17060957	1.00[EUR][1000 genomes]
rs17060963	1.00[EUR][1000 genomes]
rs6569772	1.00[EUR][1000 genomes]
rs6901103	1.00[EUR][1000 genomes]
rs6929613	1.00[EUR][1000 genomes]
rs73541587	1.00[EUR][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	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	esv3398326	chr6:132269959-132274257	Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a
3	esv3405704	chr6:132270884-132273432	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	esv3356801	chr6:132271409-132273607	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132269400-132273000	Active TSS	Ovary	ovary
2	chr6:132269800-132272800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr6:132269800-132272800	Active TSS	Psoas Muscle	Psoas
4	chr6:132270000-132273000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:132270200-132273200	Active TSS	Right Atrium	heart
6	chr6:132270400-132272800	Active TSS	Colon Smooth Muscle	Colon
7	chr6:132270600-132272800	Active TSS	Stomach Smooth Muscle	stomach
8	chr6:132270600-132272800	Active TSS	HSMM	muscle
9	chr6:132270600-132272800	Active TSS	HSMMtube	muscle
10	chr6:132270600-132272800	Active TSS	NHDF-Ad	bronchial
11	chr6:132270600-132273000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:132270600-132273000	Active TSS	Fetal Kidney	kidney
13	chr6:132270600-132273000	Active TSS	Rectal Smooth Muscle	rectum
14	chr6:132270800-132272800	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr6:132270800-132272800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr6:132271000-132273000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr6:132271200-132272800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:132271200-132272800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:132271200-132273000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr6:132271400-132272800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:132271400-132272800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr6:132271400-132272800	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr6:132271400-132273000	Active TSS	A549	lung
24	chr6:132271400-132273200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
25	chr6:132271600-132272800	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr6:132271600-132272800	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr6:132271600-132272800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:132271600-132272800	Active TSS	Brain Hippocampus Middle	brain
29	chr6:132271600-132272800	Bivalent/Poised TSS	Fetal Brain Female	brain
30	chr6:132271600-132272800	Active TSS	Fetal Stomach	stomach
31	chr6:132271600-132272800	Active TSS	Placenta Amnion	Placenta Amnion
32	chr6:132271600-132272800	Active TSS	Stomach Mucosa	stomach
33	chr6:132271600-132273000	Active TSS	H1 Cell Line	embryonic stem cell
34	chr6:132271600-132273000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:132271600-132273000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:132271600-132273000	Active TSS	Fetal Intestine Small	intestine
37	chr6:132271600-132273200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:132271600-132273200	Active TSS	Colonic Mucosa	Colon
39	chr6:132271800-132272800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:132271800-132272800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:132271800-132272800	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr6:132271800-132272800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:132271800-132272800	Active TSS	Muscle Satellite Cultured Cells	--
44	chr6:132271800-132272800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:132271800-132272800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:132271800-132272800	Active TSS	Adipose Nuclei	Adipose
47	chr6:132271800-132272800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr6:132271800-132272800	Active TSS	Left Ventricle	heart
49	chr6:132271800-132272800	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr6:132271800-132272800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle

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