Variant report

Variant	rs557993023
Chromosome Location	chr6:33377169-33377170
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33376663-33380029	HepG2	liver:	n/a	n/a
2	TEAD4	chr6:33377131-33378425	K562	blood:	n/a	n/a
3	POLR2A	chr6:33377167-33378995	K562	blood:	n/a	n/a
4	POLR2A	chr6:33376768-33379235	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr6:33376964-33379018	K562	blood:	n/a	n/a
6	CBX3	chr6:33377136-33378708	K562	blood:	n/a	n/a
7	PML	chr6:33377149-33378856	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:33377142-33378745	GM12891	blood:	n/a	n/a
9	POLR2A	chr6:33377114-33379361	K562	blood:	n/a	n/a
10	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
11	CUX1	chr6:33377120-33378134	K562	blood:	n/a	n/a
12	RFX5	chr6:33377026-33378705	SK-N-SH	brain:	n/a	chr6:33378108-33378117
13	POLR2A	chr6:33377132-33377192	Hela-S3	cervix:	n/a	n/a
14	JUN	chr6:33376898-33378748	K562	blood:	n/a	chr6:33378430-33378439 chr6:33377742-33377751
15	ELF1	chr6:33377165-33377633	K562	blood:	n/a	n/a
16	POLR2A	chr6:33377159-33379236	K562	blood:	n/a	n/a
17	HCFC1	chr6:33377063-33379614	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr6:33377157-33378682	K562	blood:	n/a	n/a
19	MTA3	chr6:33377108-33378703	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:33377155-33379598	K562	blood:	n/a	n/a
21	POLR2A	chr6:33376804-33379231	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr6:33377100-33378727	K562	blood:	n/a	n/a
23	POLR2A	chr6:33377165-33378712	PANC-1	pancreas:	n/a	n/a
24	GABPA	chr6:33377157-33378362	HL-60	blood:	n/a	chr6:33378303-33378314 chr6:33378303-33378317 chr6:33378305-33378314
25	POLR2A	chr6:33377033-33378687	HepG2	liver:	n/a	n/a
26	POLR2A	chr6:33377004-33378697	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr6:33376919-33378688	PANC-1	pancreas:	n/a	n/a
28	POLR2A	chr6:33377125-33378373	GM12892	blood:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

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	chr6:32939728..32941836-chr6:33373672..33377243,3	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	chr6:33344403..33346909-chr6:33375417..33377208,2	K562	blood:
11	chr6:33255490..33258967-chr6:33375507..33378634,5	MCF-7	breast:
12	chr6:33237328..33248026-chr6:33370896..33379989,29	K562	blood:
13	chr6:33166881..33169550-chr6:33376292..33379063,3	K562	blood:
14	chr6:33215707..33217514-chr6:33377026..33379165,2	K562	blood:
15	chr6:33280795..33292485-chr6:33374786..33387605,31	K562	blood:
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	chr6:33215708..33217469-chr6:33373843..33377513,3	MCF-7	breast:
23	chr6:33242863..33248981-chr6:33374531..33379553,10	MCF-7	breast:

No data

Variant related genes	Relation type
PHF1	TF binding region
ENSG00000202441	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000204220	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000213588	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000263756	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000204231	Chromatin interaction
ENSG00000225644	Chromatin interaction
ENSG00000227057	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000232940	Chromatin interaction
ENSG00000112473	Chromatin interaction
ENSG00000236104	Chromatin interaction
ENSG00000237441	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:101 , 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	chr6:33360800-33377200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr6:33361000-33377200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:33361200-33377200	Weak transcription	Colonic Mucosa	Colon
8	chr6:33361200-33377800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:33361600-33377200	Weak transcription	Primary B cells from cord blood	blood
10	chr6:33362200-33377600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:33363200-33377200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:33363200-33377200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:33363400-33377200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:33363400-33377200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:33364000-33377200	Weak transcription	Fetal Heart	heart
16	chr6:33366400-33377200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:33366400-33377200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr6:33371800-33377200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr6:33372000-33377400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr6:33372600-33377200	Weak transcription	NH-A	brain
21	chr6:33372600-33377600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:33372600-33377600	Weak transcription	Fetal Kidney	kidney
23	chr6:33372800-33377200	Weak transcription	Placenta	Placenta
24	chr6:33372800-33377600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr6:33373400-33377200	Weak transcription	Spleen	Spleen
26	chr6:33374000-33377200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr6:33374000-33377200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:33374000-33377400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:33374200-33377200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:33374200-33377200	Weak transcription	NHDF-Ad	bronchial
31	chr6:33374400-33377200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr6:33374400-33377200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:33374400-33377200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr6:33374400-33377200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:33374400-33377200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:33374400-33377400	Weak transcription	Fetal Brain Female	brain
37	chr6:33374600-33377200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:33374600-33377200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr6:33374600-33377400	Weak transcription	Gastric	stomach
40	chr6:33374600-33377600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:33374800-33377200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:33374800-33377200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:33374800-33377200	Weak transcription	Thymus	Thymus
44	chr6:33374800-33377400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:33374800-33377400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr6:33374800-33377400	Weak transcription	NHLF	lung
47	chr6:33375000-33377400	Weak transcription	Brain Germinal Matrix	brain
48	chr6:33375000-33377600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:33375000-33377600	Weak transcription	HSMM	muscle
50	chr6:33375200-33377200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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