Variant report

Variant	rs184718345
Chromosome Location	chr6:33377591-33377592
allele	G/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	ESRRA	chr6:33377416-33379769	GM12878	blood:	n/a	chr6:33378216-33378229 chr6:33378393-33378411 chr6:33379217-33379227 chr6:33379217-33379226 chr6:33379195-33379214 chr6:33377801-33377813
2	POLR2A	chr6:33377525-33379636	H1-hESC	embryonic stem cell:	n/a	n/a
3	CREB1	chr6:33377589-33378593	K562	blood:	n/a	chr6:33378124-33378137
4	POLR2A	chr6:33377198-33378902	HL-60	blood:	n/a	n/a
5	ELF1	chr6:33377559-33378384	MCF-7	breast:	n/a	chr6:33378003-33378015
6	SP1	chr6:33377573-33378941	HCT-116	colon:	n/a	chr6:33378405-33378414 chr6:33378456-33378466 chr6:33378406-33378415 chr6:33378098-33378119 chr6:33378348-33378360 chr6:33378323-33378333 chr6:33378405-33378415 chr6:33378431-33378440 chr6:33378006-33378015 chr6:33378457-33378466 chr6:33378456-33378466 chr6:33378349-33378358 chr6:33378004-33378016 chr6:33378052-33378066 chr6:33378255-33378269 chr6:33378322-33378334 chr6:33378404-33378416 chr6:33378180-33378192 chr6:33378349-33378359 chr6:33377739-33377753 chr6:33378430-33378442 chr6:33378456-33378465 chr6:33378371-33378381 chr6:33378427-33378441 chr6:33378180-33378192 chr6:33378345-33378359 chr6:33377883-33377893 chr6:33378004-33378015 chr6:33378404-33378416 chr6:33378350-33378359 chr6:33378323-33378333 chr6:33378432-33378441 chr6:33378348-33378360 chr6:33378182-33378191 chr6:33378051-33378062 chr6:33378430-33378442
7	POLR2A	chr6:33376663-33380029	HepG2	liver:	n/a	n/a
8	MAX	chr6:33377583-33378588	A549	lung:	n/a	chr6:33378349-33378359 chr6:33378405-33378415
9	REST	chr6:33377527-33379367	H1-neurons	neurons:	n/a	chr6:33378320-33378333
10	ARID3A	chr6:33377459-33378281	HepG2	liver:	n/a	n/a
11	ELK1	chr6:33377491-33377670	GM12878	blood:	n/a	n/a
12	TBP	chr6:33377580-33378153	HepG2	liver:	n/a	n/a
13	TEAD4	chr6:33377131-33378425	K562	blood:	n/a	n/a
14	POLR2A	chr6:33377167-33378995	K562	blood:	n/a	n/a
15	POLR2A	chr6:33376768-33379235	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr6:33377277-33378886	HL-60	blood:	n/a	n/a
17	POLR2A	chr6:33376964-33379018	K562	blood:	n/a	n/a
18	POLR2A	chr6:33377397-33379021	Raji	blood:	n/a	n/a
19	TBL1XR1	chr6:33377393-33378246	GM12878	blood:	n/a	n/a
20	CBX3	chr6:33377136-33378708	K562	blood:	n/a	n/a
21	TEAD4	chr6:33377527-33378377	K562	blood:	n/a	n/a
22	ELK1	chr6:33377562-33377877	K562	blood:	n/a	n/a
23	PML	chr6:33377149-33378856	GM12878	blood:	n/a	n/a
24	POLR2A	chr6:33377283-33379114	NB4	blood:	n/a	n/a
25	POLR2A	chr6:33377142-33378745	GM12891	blood:	n/a	n/a
26	ZNF143	chr6:33377533-33377599	K562	blood:	n/a	n/a
27	POLR2A	chr6:33377114-33379361	K562	blood:	n/a	n/a
28	ATF1	chr6:33377456-33378622	K562	blood:	n/a	n/a
29	POLR2A	chr6:33377325-33379654	IMR90	lung:	n/a	n/a
30	POLR2A	chr6:33377387-33379068	GM18951	blood:	n/a	n/a
31	PBX3	chr6:33377529-33378769	SK-N-SH	brain:	n/a	chr6:33378108-33378117
32	IRF1	chr6:33377161-33378264	K562	blood:	n/a	chr6:33377880-33377894 chr6:33378180-33378194 chr6:33378049-33378063 chr6:33377168-33377182 chr6:33378004-33378018 chr6:33378109-33378118 chr6:33377168-33377178
33	CUX1	chr6:33377120-33378134	K562	blood:	n/a	n/a
34	POLR2A	chr6:33377455-33379323	Hela-S3	cervix:	n/a	n/a
35	MAX	chr6:33377590-33378727	K562	blood:	n/a	chr6:33378349-33378359 chr6:33378405-33378415
36	POLR2A	chr6:33377521-33378386	GM12892	blood:	n/a	n/a
37	POLR2A	chr6:33377207-33378430	GM12892	blood:	n/a	n/a
38	RFX5	chr6:33377026-33378705	SK-N-SH	brain:	n/a	chr6:33378108-33378117
39	RUNX3	chr6:33377327-33377610	GM12878	blood:	n/a	n/a
40	POLR2A	chr6:33377583-33378709	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr6:33377388-33379043	GM19099	blood:	n/a	n/a
42	POLR2A	chr6:33377578-33378444	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr6:33377432-33379052	GM19193	blood:	n/a	n/a
44	POLR2A	chr6:33377254-33378959	K562	blood:	n/a	n/a
45	BCL3	chr6:33377432-33378520	A549	lung:	n/a	chr6:33377704-33377712
46	JUND	chr6:33377391-33379285	K562	blood:	n/a	chr6:33378430-33378439 chr6:33377742-33377751 chr6:33379019-33379028
47	EGR1	chr6:33377529-33378714	K562	blood:	n/a	chr6:33377736-33377747 chr6:33377750-33377763 chr6:33378404-33378414 chr6:33378207-33378216 chr6:33377884-33377899 chr6:33378304-33378313 chr6:33378348-33378358
48	JUN	chr6:33376898-33378748	K562	blood:	n/a	chr6:33378430-33378439 chr6:33377742-33377751
49	MAZ	chr6:33377268-33379379	K562	blood:	n/a	chr6:33378349-33378359 chr6:33378405-33378415
50	TBL1XR1	chr6:33377332-33378319	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:33279489..33293095-chr6:33375317..33398824,56	K562	blood:
2	chr6:33366608..33368247-chr6:33376462..33378479,2	MCF-7	breast:
3	chr6:33377039..33379614-chr6:33421781..33424452,2	K562	blood:
4	chr6:33167104..33169096-chr6:33376083..33378504,2	K562	blood:
5	chr6:33377496..33379251-chr6:33661661..33664420,2	MCF-7	breast:
6	chr6:33237157..33241221-chr6:33375922..33380109,6	MCF-7	breast:
7	chr6:33357351..33361150-chr6:33373102..33380127,12	MCF-7	breast:
8	chr6:33256522..33259302-chr6:33375799..33380992,5	MCF-7	breast:
9	chr6:30710804..30712449-chr6:33376908..33379450,2	MCF-7	breast:
10	chr6:33255490..33258967-chr6:33375507..33378634,5	MCF-7	breast:
11	chr6:33237328..33248026-chr6:33370896..33379989,29	K562	blood:
12	chr6:33166881..33169550-chr6:33376292..33379063,3	K562	blood:
13	chr6:33215707..33217514-chr6:33377026..33379165,2	K562	blood:
14	chr6:33280795..33292485-chr6:33374786..33387605,31	K562	blood:
15	chr6:33280452..33282497-chr6:33377188..33378997,2	MCF-7	breast:
16	chr6:33263073..33268205-chr6:33376944..33380191,7	MCF-7	breast:
17	chr6:33261342..33263204-chr6:33376924..33379323,2	K562	blood:
18	chr6:33237079..33247876-chr6:33369927..33381738,26	K562	blood:
19	chr6:33256889..33260224-chr6:33374160..33378303,4	K562	blood:
20	chr6:33356271..33363521-chr6:33371085..33380351,32	K562	blood:
21	chr6:33244680..33251060-chr6:33375427..33382644,12	MCF-7	breast:
22	chr6:33359285..33360429-chr6:33377538..33378244,3	K562	blood:
23	chr6:33242863..33248981-chr6:33374531..33379553,10	MCF-7	breast:

Variant related genes	Relation type
PHF1	TF binding region
ENSG00000231925	Chromatin interaction
ENSG00000269490	Chromatin interaction
ENSG00000202441	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000232940	Chromatin interaction
ENSG00000112473	Chromatin interaction
ENSG00000225644	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000236104	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000213588	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000227057	Chromatin interaction
ENSG00000204220	Chromatin interaction
ENSG00000204231	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	esv3439586	chr6:33376999-33380347	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
4	esv3335292	chr6:33377349-33379972	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
5	nsv885769	chr6:33377522-33412197	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33360000-33377600	Weak transcription	Right Atrium	heart
2	chr6:33360400-33377600	Weak transcription	Esophagus	oesophagus
3	chr6:33360400-33377600	Weak transcription	Lung	lung
4	chr6:33361200-33377800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:33362200-33377600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:33372600-33377600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:33372600-33377600	Weak transcription	Fetal Kidney	kidney
8	chr6:33372800-33377600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:33374600-33377600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:33375000-33377600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:33375000-33377600	Weak transcription	HSMM	muscle
12	chr6:33376200-33377600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:33376200-33377600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr6:33376600-33380000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:33377000-33377600	Enhancers	Primary B cells from peripheral blood	blood
16	chr6:33377000-33377600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:33377000-33377800	Flanking Active TSS	HepG2	liver
18	chr6:33377000-33378000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:33377000-33378000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:33377000-33378000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr6:33377000-33379600	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr6:33377200-33377600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
23	chr6:33377200-33377600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:33377200-33377600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:33377200-33377600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr6:33377200-33377600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr6:33377200-33377600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr6:33377200-33377600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:33377200-33377600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:33377200-33377600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr6:33377200-33377600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr6:33377200-33377600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:33377200-33377600	Enhancers	Brain Hippocampus Middle	brain
34	chr6:33377200-33377600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:33377200-33377600	Enhancers	Colon Smooth Muscle	Colon
36	chr6:33377200-33377600	Enhancers	Fetal Brain Male	brain
37	chr6:33377200-33377600	Enhancers	Fetal Lung	lung
38	chr6:33377200-33377600	Enhancers	Placenta	Placenta
39	chr6:33377200-33377600	Enhancers	Fetal Stomach	stomach
40	chr6:33377200-33377600	Enhancers	Fetal Thymus	thymus
41	chr6:33377200-33377600	Enhancers	Pancreas	Pancrea
42	chr6:33377200-33377600	Enhancers	Thymus	Thymus
43	chr6:33377200-33377600	Enhancers	HUVEC	blood vessel
44	chr6:33377200-33377600	Enhancers	NH-A	brain
45	chr6:33377200-33377600	Enhancers	NHDF-Ad	bronchial
46	chr6:33377200-33377600	Enhancers	NHEK	skin
47	chr6:33377200-33377800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr6:33377200-33377800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:33377200-33377800	Enhancers	Spleen	Spleen
50	chr6:33377200-33377800	Flanking Active TSS	Hela-S3	cervix

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