Variant report

Variant	rs536724274
Chromosome Location	chr6:86352721-86352722
allele	-/CCCTT
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	chr6:86351174-86354473	GM12891	blood:	n/a	n/a
2	CREB1	chr6:86351687-86354189	GM12878	blood:	n/a	chr6:86353040-86353053
3	RCOR1	chr6:86352307-86354551	K562	blood:	n/a	n/a
4	SIN3AK20	chr6:86352333-86353288	HepG2	liver:	n/a	n/a
5	ETS1	chr6:86351514-86353121	K562	blood:	n/a	chr6:86352339-86352346 chr6:86352339-86352350 chr6:86352338-86352352
6	POLR2A	chr6:86351331-86354153	GM19193	blood:	n/a	n/a
7	SPI1	chr6:86351947-86352733	GM12878	blood:	n/a	chr6:86352334-86352347 chr6:86352195-86352208 chr6:86352335-86352348
8	MAZ	chr6:86351729-86354155	GM12878	blood:	n/a	chr6:86351734-86351745 chr6:86351735-86351744 chr6:86351733-86351746 chr6:86351734-86351745 chr6:86351735-86351742 chr6:86353234-86353244 chr6:86351734-86351745 chr6:86351733-86351746 chr6:86351731-86351746 chr6:86351735-86351745
9	YY1	chr6:86352097-86353323	SK-N-SH	brain:	n/a	chr6:86352347-86352356 chr6:86352611-86352627 chr6:86352351-86352365 chr6:86353251-86353265 chr6:86352616-86352626 chr6:86352347-86352361 chr6:86352604-86352626 chr6:86352610-86352627 chr6:86353255-86353269 chr6:86352614-86352626 chr6:86352616-86352626
10	SIN3AK20	chr6:86351328-86353307	K562	blood:	n/a	n/a
11	POLR2A	chr6:86351303-86354154	K562	blood:	n/a	n/a
12	SIN3AK20	chr6:86352620-86353005	A549	lung:	n/a	n/a
13	BHLHE40	chr6:86352441-86354008	HepG2	liver:	n/a	chr6:86353372-86353388
14	MYC	chr6:86351154-86354425	A549	lung:	n/a	chr6:86351734-86351745 chr6:86351735-86351744 chr6:86351733-86351746 chr6:86351734-86351745 chr6:86351735-86351742 chr6:86353234-86353244 chr6:86351734-86351745 chr6:86351733-86351746 chr6:86351731-86351746 chr6:86351735-86351745 chr6:86351735-86351745
15	SIN3AK20	chr6:86352426-86353130	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr6:86352306-86353225	HepG2	liver:	n/a	n/a
17	MAFK	chr6:86352337-86353110	K562	blood:	n/a	n/a
18	CTBP2	chr6:86352210-86353944	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr6:86351197-86354087	K562	blood:	n/a	chr6:86351734-86351745 chr6:86351735-86351744 chr6:86351733-86351746 chr6:86351734-86351745 chr6:86351735-86351742 chr6:86353234-86353244 chr6:86351734-86351745 chr6:86351733-86351746 chr6:86351731-86351746 chr6:86351735-86351745 chr6:86351735-86351745
20	KAP1	chr6:86352236-86353124	HEK293	kidney:	n/a	n/a
21	POLR2A	chr6:86351593-86354076	MCF-7	breast:	n/a	n/a
22	RFX5	chr6:86352172-86354511	Hela-S3	cervix:	n/a	n/a
23	ELF1	chr6:86351995-86353900	MCF-7	breast:	n/a	chr6:86352335-86352346
24	NFIC	chr6:86352442-86353230	HepG2	liver:	n/a	n/a
25	RAD21	chr6:86352634-86352915	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr6:86351664-86354190	ProgFib	skin:	n/a	n/a
27	TEAD4	chr6:86352166-86353216	K562	blood:	n/a	n/a
28	PML	chr6:86352426-86353316	MCF-7	breast:	n/a	n/a
29	MAFK	chr6:86352399-86354282	Hela-S3	cervix:	n/a	n/a
30	STAT5A	chr6:86352380-86353177	GM12878	blood:	n/a	chr6:86352401-86352425
31	MYC	chr6:86352429-86354085	HepG2	liver:	n/a	chr6:86353234-86353244
32	POLR2A	chr6:86351519-86354693	PANC-1	pancreas:	n/a	n/a
33	SIN3A	chr6:86351181-86354556	H1-hESC	embryonic stem cell:	n/a	chr6:86352350-86352363
34	MAX	chr6:86351430-86354098	MCF-7	breast:	n/a	chr6:86351734-86351745 chr6:86351735-86351744 chr6:86351733-86351746 chr6:86351734-86351745 chr6:86351735-86351742 chr6:86353234-86353244 chr6:86351734-86351745 chr6:86351733-86351746 chr6:86351731-86351746 chr6:86351735-86351745 chr6:86351735-86351745
35	POLR2A	chr6:86351219-86354091	K562	blood:	n/a	n/a
36	HEY1	chr6:86351287-86353246	K562	blood:	n/a	chr6:86352348-86352363
37	ETS1	chr6:86352456-86353246	A549	lung:	n/a	chr6:86353159-86353170
38	EP300	chr6:86352410-86353221	GM12878	blood:	n/a	n/a
39	POLR2A	chr6:86351250-86354180	GM12892	blood:	n/a	n/a
40	POLR2A	chr6:86351241-86354579	MCF10A-Er-Src	breast:	n/a	n/a
41	REST	chr6:86352036-86353230	H1-neurons	neurons:	n/a	chr6:86352441-86352454
42	USF1	chr6:86352468-86352780	A549	lung:	n/a	n/a
43	WRNIP1	chr6:86351225-86353033	GM12878	blood:	n/a	n/a
44	POLR2A	chr6:86351736-86354794	PFSK-1	brain:	n/a	n/a
45	NFIC	chr6:86352056-86353313	GM12878	blood:	n/a	n/a
46	HCFC1	chr6:86350984-86354685	Hela-S3	cervix:	n/a	n/a
47	JUN	chr6:86352407-86354455	K562	blood:	n/a	chr6:86353255-86353264 chr6:86353377-86353386
48	TAF1	chr6:86352451-86352785	GM12891	blood:	n/a	n/a
49	ARID3A	chr6:86352479-86353150	K562	blood:	n/a	n/a
50	CTCF	chr6:86352620-86352770	AG04449	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:46413152..46415353-chr6:86350444..86353443,6	MCF-7	breast:
2	chr14:64319297..64319918-chr6:86352603..86353316,2	Hela-S3	cervix:
3	chr20:62168632..62169262-chr6:86352659..86353308,2	Hela-S3	cervix:
4	chr6:86338689..86357756-chr6:86378394..86390434,115	MCF-7	breast:
5	chr6:86352184..86353057-chr7:139043808..139044711,2	Hela-S3	cervix:
6	chr6:86352199..86352987-chr6:86387888..86388697,2	NB4	blood:
7	chr13:111364810..111365745-chr6:86352411..86352955,2	Hela-S3	cervix:
8	chr6:86320215..86324957-chr6:86350476..86355138,8	MCF-7	breast:
9	chr6:86299824..86305374-chr6:86350530..86356322,11	MCF-7	breast:
10	chr6:86352030..86354482-chr6:87864521..87866716,2	MCF-7	breast:
11	chr6:86300873..86305245-chr6:86347697..86356641,19	K562	blood:
12	chr6:86300457..86307827-chr6:86347697..86356337,20	K562	blood:
13	chr6:86301331..86304881-chr6:86350851..86355985,12	MCF-7	breast:
14	chr6:86288404..86291892-chr6:86352318..86354794,4	MCF-7	breast:
15	chr16:31469119..31472117-chr6:86351411..86353551,2	MCF-7	breast:
16	chr20:45947519..45949919-chr6:86351890..86353788,2	MCF-7	breast:
17	chr6:86350291..86355305-chr6:86366070..86378212,20	MCF-7	breast:
18	chr6:84138710..84141481-chr6:86352138..86354158,2	MCF-7	breast:
19	chr6:86352417..86353203-chr6:86386848..86388878,6	MCF-7	breast:
20	chr6:86322096..86325209-chr6:86349720..86353694,5	K562	blood:
21	chr2:232574718..232575695-chr6:86352392..86353013,2	Hela-S3	cervix:
22	chr6:86323129..86325610-chr6:86352120..86353787,3	K562	blood:

Variant related genes	Relation type
SYNCRIP	TF binding region
ENSG00000260267	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000272008	Chromatin interaction
ENSG00000187514	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000203875	Chromatin interaction
ENSG00000273391	Chromatin interaction
ENSG00000146963	Chromatin interaction
ENSG00000135317	Chromatin interaction
ENSG00000134905	Chromatin interaction
ENSG00000271793	Chromatin interaction
ENSG00000065833	Chromatin interaction
ENSG00000101213	Chromatin interaction
ENSG00000054654	Chromatin interaction
ENSG00000188994	Chromatin interaction
ENSG00000196562	Chromatin interaction
ENSG00000220563	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv886334	chr6:86214507-86394403	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
4	esv3397854	chr6:86352258-86355106	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86349000-86354600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:86349200-86353000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
3	chr6:86349800-86354200	Active TSS	NHLF	lung
4	chr6:86350200-86353000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:86350400-86354200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:86350400-86354200	Active TSS	Fetal Intestine Small	intestine
7	chr6:86350400-86354400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:86350400-86354400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:86350400-86354400	Active TSS	Fetal Intestine Large	intestine
10	chr6:86350400-86354600	Active TSS	Aorta	Aorta
11	chr6:86350400-86354600	Active TSS	Ovary	ovary
12	chr6:86350400-86354600	Active TSS	Right Ventricle	heart
13	chr6:86350400-86354800	Active TSS	Fetal Muscle Leg	muscle
14	chr6:86350400-86355200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr6:86350400-86355200	Active TSS	Psoas Muscle	Psoas
16	chr6:86350600-86354200	Active TSS	Fetal Kidney	kidney
17	chr6:86350600-86354400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr6:86350600-86355000	Active TSS	HSMMtube	muscle
19	chr6:86350600-86355200	Active TSS	Stomach Smooth Muscle	stomach
20	chr6:86350600-86355600	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr6:86350800-86354200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:86350800-86354200	Active TSS	Fetal Stomach	stomach
23	chr6:86350800-86354400	Active TSS	HMEC	breast
24	chr6:86350800-86354600	Active TSS	Fetal Muscle Trunk	muscle
25	chr6:86350800-86354600	Active TSS	NHDF-Ad	bronchial
26	chr6:86350800-86355200	Active TSS	Colonic Mucosa	Colon
27	chr6:86350800-86355200	Active TSS	A549	lung
28	chr6:86351000-86352800	Active TSS	Fetal Brain Male	brain
29	chr6:86351000-86353000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:86351000-86353800	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr6:86351000-86354000	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr6:86351000-86354000	Active TSS	HUVEC	blood vessel
33	chr6:86351000-86354200	Active TSS	H1 Cell Line	embryonic stem cell
34	chr6:86351000-86354200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:86351000-86354200	Active TSS	Fetal Lung	lung
36	chr6:86351000-86354200	Active TSS	Hela-S3	cervix
37	chr6:86351000-86354400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:86351000-86354400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:86351000-86354400	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr6:86351000-86354400	Active TSS	GM12878-XiMat	blood
41	chr6:86351000-86354400	Active TSS	NH-A	brain
42	chr6:86351000-86354600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:86351000-86355000	Active TSS	Rectal Smooth Muscle	rectum
44	chr6:86351200-86354000	Active TSS	Esophagus	oesophagus
45	chr6:86351200-86354000	Active TSS	Gastric	stomach
46	chr6:86351200-86354000	Active TSS	Lung	lung
47	chr6:86351200-86354000	Active TSS	Stomach Mucosa	stomach
48	chr6:86351200-86354200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:86351200-86354200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:86351200-86354200	Active TSS	Muscle Satellite Cultured Cells	--

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