Variant report

Variant	rs528008321
Chromosome Location	chr6:49430559-49430560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:115)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:115 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:49430346-49431460	GM12878	blood:	n/a	n/a
2	YY1	chr6:49430333-49430603	K562	blood:	n/a	n/a
3	MAZ	chr6:49430336-49431604	K562	blood:	n/a	n/a
4	MYBL2	chr6:49430441-49431520	HepG2	liver:	n/a	n/a
5	MAX	chr6:49430539-49431407	HCT-116	colon:	n/a	n/a
6	SIN3A	chr6:49430267-49432021	H1-hESC	embryonic stem cell:	n/a	n/a
7	EGR1	chr6:49430482-49431413	HCT-116	colon:	n/a	chr6:49430906-49430920 chr6:49431082-49431091 chr6:49430963-49430977
8	POLR2A	chr6:49430553-49431480	GM12892	blood:	n/a	n/a
9	POLR2A	chr6:49430241-49431637	PFSK-1	brain:	n/a	n/a
10	RCOR1	chr6:49430496-49431255	HepG2	liver:	n/a	n/a
11	HEY1	chr6:49430505-49431732	K562	blood:	n/a	n/a
12	REST	chr6:49430106-49431541	H1-neurons	neurons:	n/a	chr6:49430936-49430949 chr6:49430509-49430529 chr6:49430515-49430529
13	CHD1	chr6:49430423-49431181	GM12878	blood:	n/a	n/a
14	HCFC1	chr6:49430429-49431502	K562	blood:	n/a	n/a
15	TEAD4	chr6:49430418-49431423	K562	blood:	n/a	n/a
16	HCFC1	chr6:49429845-49431540	Hela-S3	cervix:	n/a	n/a
17	RFX5	chr6:49430011-49431401	Hela-S3	cervix:	n/a	n/a
18	MXI1	chr6:49429642-49431594	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:49429912-49431522	IMR90	lung:	n/a	n/a
20	POLR2A	chr6:49430470-49431555	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr6:49430541-49431471	U87	brain:	n/a	n/a
22	MYC	chr6:49430378-49431732	K562	blood:	n/a	n/a
23	POLR2A	chr6:49430177-49432089	HepG2	liver:	n/a	n/a
24	ZKSCAN1	chr6:49430526-49431360	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr6:49430366-49431683	PFSK-1	brain:	n/a	n/a
26	ELK1	chr6:49430313-49431590	Hela-S3	cervix:	n/a	n/a
27	MAX	chr6:49430213-49431476	K562	blood:	n/a	n/a
28	POLR2A	chr6:49430442-49431501	K562	blood:	n/a	n/a
29	SIN3AK20	chr6:49430365-49431458	K562	blood:	n/a	n/a
30	POLR2A	chr6:49430432-49431396	NB4	blood:	n/a	n/a
31	TBP	chr6:49430351-49431531	HepG2	liver:	n/a	n/a
32	MAZ	chr6:49430148-49431516	IMR90	lung:	n/a	n/a
33	STAT5A	chr6:49430513-49431435	K562	blood:	n/a	n/a
34	RUNX3	chr6:49430553-49431320	GM12878	blood:	n/a	chr6:49430922-49430939
35	TAF1	chr6:49430546-49431652	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr6:49430132-49431947	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr6:49430334-49431675	K562	blood:	n/a	n/a
38	TBP	chr6:49430479-49431550	H1-hESC	embryonic stem cell:	n/a	n/a
39	SIN3AK20	chr6:49430507-49431548	HCT-116	colon:	n/a	n/a
40	STAT5A	chr6:49430522-49431402	GM12878	blood:	n/a	n/a
41	POLR2A	chr6:49430550-49431578	K562	blood:	n/a	n/a
42	GABPA	chr6:49430316-49431849	MCF-7	breast:	n/a	chr6:49431064-49431071
43	CREB1	chr6:49430395-49431675	HepG2	liver:	n/a	n/a
44	MAX	chr6:49430481-49431342	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr6:49429792-49431845	MCF10A-Er-Src	breast:	n/a	n/a
46	MAZ	chr6:49430523-49431257	GM12878	blood:	n/a	n/a
47	POLR2A	chr6:49430503-49431357	Hela-S3	cervix:	n/a	n/a
48	SP1	chr6:49430510-49431460	HCT-116	colon:	n/a	chr6:49430754-49430768 chr6:49430908-49430917
49	MYC	chr6:49430482-49431566	NB4	blood:	n/a	n/a
50	POLR2A	chr6:49430521-49431426	HL-60	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:65596663..65597464-chr6:49430249..49430946,2	Hela-S3	cervix:
2	chr6:49429949..49432434-chr6:49603239..49605832,3	K562	blood:
3	chr6:49428636..49430625-chr6:49435581..49438306,2	MCF-7	breast:
4	chr6:49419838..49421598-chr6:49428414..49430900,2	K562	blood:
5	chr6:49428075..49430840-chr6:49629508..49632761,3	K562	blood:
6	chr6:49429390..49432411-chr6:49516710..49519961,3	MCF-7	breast:
7	chr6:49428409..49430841-chr6:49452599..49454961,2	K562	blood:

No data

Variant related genes	Relation type
CENPQ	TF binding region
ENSG00000200156	Chromatin interaction
ENSG00000112077	Chromatin interaction
ENSG00000197261	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024959	chr6:49290141-49652124	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021136	chr6:49295037-49631278	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv603081	chr6:49421241-49446233	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv603082	chr6:49421241-49446509	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv603083	chr6:49429706-49446233	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv603084	chr6:49429706-49446509	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv603085	chr6:49429706-49450341	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	10 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	chr6:49429000-49434200	Active TSS	GM12878-XiMat	blood
2	chr6:49429200-49430800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:49429200-49432000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:49429400-49430600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:49429400-49430800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:49429400-49432000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:49429400-49432000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:49429400-49432200	Active TSS	Ovary	ovary
9	chr6:49429400-49432200	Active TSS	Right Atrium	heart
10	chr6:49429600-49430600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr6:49429600-49430600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr6:49429600-49430600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr6:49429600-49430600	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr6:49429600-49430600	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr6:49429600-49430600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr6:49429600-49430600	Flanking Active TSS	HUVEC	blood vessel
17	chr6:49429600-49430800	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr6:49429600-49430800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr6:49429600-49430800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr6:49429600-49431600	Active TSS	Brain Cingulate Gyrus	brain
21	chr6:49429600-49431600	Active TSS	Brain Substantia Nigra	brain
22	chr6:49429600-49431600	Active TSS	Stomach Smooth Muscle	stomach
23	chr6:49429600-49431800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr6:49429600-49431800	Active TSS	Psoas Muscle	Psoas
25	chr6:49429600-49431800	Active TSS	Right Ventricle	heart
26	chr6:49429600-49432000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:49429600-49432000	Active TSS	Colonic Mucosa	Colon
28	chr6:49429600-49432000	Active TSS	NHDF-Ad	bronchial
29	chr6:49429600-49432200	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr6:49429600-49432200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:49429600-49432200	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr6:49429600-49432200	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr6:49429600-49432200	Active TSS	Fetal Kidney	kidney
34	chr6:49429600-49432200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr6:49429600-49432200	Active TSS	NHLF	lung
36	chr6:49429800-49430600	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr6:49429800-49430600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr6:49429800-49430600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:49429800-49430600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr6:49429800-49430600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr6:49429800-49430600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr6:49429800-49430600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr6:49429800-49431400	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr6:49429800-49431600	Active TSS	Aorta	Aorta
45	chr6:49429800-49431800	Active TSS	Left Ventricle	heart
46	chr6:49429800-49432000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:49429800-49432000	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr6:49429800-49432000	Active TSS	HSMMtube	muscle
49	chr6:49429800-49432400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:49430000-49430600	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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