Variant report

Variant	rs373575912
Chromosome Location	chr6:33377374-33377375
allele	A/G
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	SPI1	chr6:33377336-33377580	K562	blood:	n/a	n/a
2	POLR2A	chr6:33377198-33378902	HL-60	blood:	n/a	n/a
3	POLR2A	chr6:33376663-33380029	HepG2	liver:	n/a	n/a
4	TEAD4	chr6:33377131-33378425	K562	blood:	n/a	n/a
5	POLR2A	chr6:33377167-33378995	K562	blood:	n/a	n/a
6	POLR2A	chr6:33376768-33379235	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr6:33377277-33378886	HL-60	blood:	n/a	n/a
8	POLR2A	chr6:33376964-33379018	K562	blood:	n/a	n/a
9	GABPA	chr6:33377366-33377568	GM12878	blood:	n/a	n/a
10	CBX3	chr6:33377136-33378708	K562	blood:	n/a	n/a
11	RUNX3	chr6:33377246-33377579	GM12878	blood:	n/a	n/a
12	PML	chr6:33377149-33378856	GM12878	blood:	n/a	n/a
13	POLR2A	chr6:33377283-33379114	NB4	blood:	n/a	n/a
14	POLR2A	chr6:33377142-33378745	GM12891	blood:	n/a	n/a
15	POLR2A	chr6:33377114-33379361	K562	blood:	n/a	n/a
16	POLR2A	chr6:33377325-33379654	IMR90	lung:	n/a	n/a
17	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
18	CUX1	chr6:33377120-33378134	K562	blood:	n/a	n/a
19	POLR2A	chr6:33377207-33378430	GM12892	blood:	n/a	n/a
20	RFX5	chr6:33377026-33378705	SK-N-SH	brain:	n/a	chr6:33378108-33378117
21	POLR2A	chr6:33377264-33377532	GM12891	blood:	n/a	n/a
22	RUNX3	chr6:33377327-33377610	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:33377367-33377412	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr6:33377254-33378959	K562	blood:	n/a	n/a
25	JUN	chr6:33376898-33378748	K562	blood:	n/a	chr6:33378430-33378439 chr6:33377742-33377751
26	MAZ	chr6:33377268-33379379	K562	blood:	n/a	chr6:33378349-33378359 chr6:33378405-33378415
27	TBL1XR1	chr6:33377332-33378319	K562	blood:	n/a	n/a
28	CREB1	chr6:33377241-33378643	K562	blood:	n/a	chr6:33378124-33378137
29	EP300	chr6:33377346-33379191	K562	blood:	n/a	chr6:33378279-33378295 chr6:33378237-33378253
30	NR2F2	chr6:33377185-33378388	K562	blood:	n/a	n/a
31	ELF1	chr6:33377165-33377633	K562	blood:	n/a	n/a
32	MYBL2	chr6:33377292-33378351	HepG2	liver:	n/a	n/a
33	POLR2A	chr6:33377294-33379028	K562	blood:	n/a	n/a
34	HEY1	chr6:33377319-33377588	K562	blood:	n/a	n/a
35	POLR2A	chr6:33377159-33379236	K562	blood:	n/a	n/a
36	GABPA	chr6:33377255-33378735	K562	blood:	n/a	chr6:33378303-33378314 chr6:33378303-33378317 chr6:33378305-33378314
37	POLR2A	chr6:33377189-33379499	Hela-S3	cervix:	n/a	n/a
38	HCFC1	chr6:33377063-33379614	Hela-S3	cervix:	n/a	n/a
39	SPI1	chr6:33377223-33377653	HL-60	blood:	n/a	n/a
40	POLR2A	chr6:33377282-33379074	K562	blood:	n/a	n/a
41	EGR1	chr6:33377356-33378709	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
42	POLR2A	chr6:33377244-33377542	HCT-116	colon:	n/a	n/a
43	POLR2A	chr6:33377157-33378682	K562	blood:	n/a	n/a
44	TRIM28	chr6:33377188-33378425	K562	blood:	n/a	n/a
45	POLR2A	chr6:33377288-33379259	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr6:33377250-33378970	GM12878	blood:	n/a	n/a
47	MTA3	chr6:33377108-33378703	GM12878	blood:	n/a	n/a
48	RCOR1	chr6:33377350-33378858	K562	blood:	n/a	n/a
49	POLR2A	chr6:33377155-33379598	K562	blood:	n/a	n/a
50	POLR2A	chr6:33376804-33379231	SK-N-MC	brain:	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	chr6:33237157..33241221-chr6:33375922..33380109,6	MCF-7	breast:
6	chr6:33357351..33361150-chr6:33373102..33380127,12	MCF-7	breast:
7	chr6:33256522..33259302-chr6:33375799..33380992,5	MCF-7	breast:
8	chr6:30710804..30712449-chr6:33376908..33379450,2	MCF-7	breast:
9	chr6:33255490..33258967-chr6:33375507..33378634,5	MCF-7	breast:
10	chr6:33237328..33248026-chr6:33370896..33379989,29	K562	blood:
11	chr6:33166881..33169550-chr6:33376292..33379063,3	K562	blood:
12	chr6:33215707..33217514-chr6:33377026..33379165,2	K562	blood:
13	chr6:33280795..33292485-chr6:33374786..33387605,31	K562	blood:
14	chr6:33280452..33282497-chr6:33377188..33378997,2	MCF-7	breast:
15	chr6:33263073..33268205-chr6:33376944..33380191,7	MCF-7	breast:
16	chr6:33261342..33263204-chr6:33376924..33379323,2	K562	blood:
17	chr6:33237079..33247876-chr6:33369927..33381738,26	K562	blood:
18	chr6:33256889..33260224-chr6:33374160..33378303,4	K562	blood:
19	chr6:33356271..33363521-chr6:33371085..33380351,32	K562	blood:
20	chr6:33244680..33251060-chr6:33375427..33382644,12	MCF-7	breast:
21	chr6:33215708..33217469-chr6:33373843..33377513,3	MCF-7	breast:
22	chr6:33242863..33248981-chr6:33374531..33379553,10	MCF-7	breast:

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

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33360000-33377400	Weak transcription	Small Intestine	intestine
2	chr6:33360000-33377600	Weak transcription	Right Atrium	heart
3	chr6:33360400-33377600	Weak transcription	Esophagus	oesophagus
4	chr6:33360400-33377600	Weak transcription	Lung	lung
5	chr6:33361200-33377800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:33362200-33377600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:33372000-33377400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr6:33372600-33377600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:33372600-33377600	Weak transcription	Fetal Kidney	kidney
10	chr6:33372800-33377600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:33374000-33377400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:33374400-33377400	Weak transcription	Fetal Brain Female	brain
13	chr6:33374600-33377400	Weak transcription	Gastric	stomach
14	chr6:33374600-33377600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:33374800-33377400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:33374800-33377400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:33374800-33377400	Weak transcription	NHLF	lung
18	chr6:33375000-33377400	Weak transcription	Brain Germinal Matrix	brain
19	chr6:33375000-33377600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:33375000-33377600	Weak transcription	HSMM	muscle
21	chr6:33376200-33377400	Weak transcription	HMEC	breast
22	chr6:33376200-33377400	Weak transcription	Osteobl	bone
23	chr6:33376200-33377600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:33376200-33377600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr6:33376600-33380000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:33376800-33377400	Enhancers	Primary hematopoietic stem cells	blood
27	chr6:33376800-33377400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:33377000-33377400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:33377000-33377400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr6:33377000-33377400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr6:33377000-33377400	Active TSS	Primary T cells from cord blood	blood
32	chr6:33377000-33377400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr6:33377000-33377400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr6:33377000-33377400	Enhancers	Fetal Intestine Large	intestine
35	chr6:33377000-33377400	Enhancers	Fetal Intestine Small	intestine
36	chr6:33377000-33377400	Enhancers	A549	lung
37	chr6:33377000-33377400	Genic enhancers	Dnd41	blood
38	chr6:33377000-33377600	Enhancers	Primary B cells from peripheral blood	blood
39	chr6:33377000-33377600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr6:33377000-33377800	Flanking Active TSS	HepG2	liver
41	chr6:33377000-33378000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:33377000-33378000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:33377000-33378000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr6:33377000-33379600	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr6:33377200-33377400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr6:33377200-33377400	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr6:33377200-33377400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr6:33377200-33377400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:33377200-33377400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:33377200-33377400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived

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