Variant report

Variant	rs550563581
Chromosome Location	chr6:29648231-29648232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:29648180-29648330	GM12867	blood:	n/a	n/a
2	POLR2A	chr6:29648195-29649120	GM18951	blood:	n/a	n/a
3	MAX	chr6:29648039-29648281	K562	blood:	n/a	chr6:29648221-29648230 chr6:29648220-29648231
4	YY1	chr6:29647863-29648474	GM12891	blood:	n/a	chr6:29648056-29648066 chr6:29648059-29648067 chr6:29648251-29648259
5	POLR2A	chr6:29647749-29649223	GM12891	blood:	n/a	n/a
6	TAF1	chr6:29648154-29648378	GM12891	blood:	n/a	n/a
7	CTCF	chr6:29648176-29648470	H1-hESC	embryonic stem cell:	n/a	chr6:29648349-29648358
8	POLR2A	chr6:29648091-29648540	GM12891	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29648225-29648275	PANC-1	pancreas:	n/a
2	chr6:29648225-29648275	AG04450	lung:	fetal
3	chr6:29648225-29648275	AG09309	skin:	n/a
4	chr6:29648225-29648275	AG10803	skin:	n/a
5	chr6:29648225-29648275	RPTEC	kidney:	n/a
6	chr6:29648225-29648275	PrEC	prostate:	n/a
7	chr6:29648225-29648275	HCM	heart:	n/a
8	chr6:29648225-29648275	SKMC	muscle:	n/a
9	chr6:29648225-29648275	PFSK-1	brain:	n/a
10	chr6:29648225-29648275	CMK	blood:	n/a
11	chr6:29648225-29648275	NT2-D1	testis:	n/a
12	chr6:29648225-29648275	HCT-116	colon:	n/a
13	chr6:29648225-29648275	HEK293	kidney:	embryo
14	chr6:29648225-29648275	Caco-2	colon:	n/a
15	chr6:29648225-29648275	LNCaP	prostate:	n/a
16	chr6:29648225-29648275	H1-hESC	embryonic stem cell:	embryo
17	chr6:29648225-29648275	HRPEpiC	eye:	n/a
18	chr6:29648225-29648275	HCPEpiC	choroid plexus:	n/a
19	chr6:29648225-29648275	BJ	skin:	n/a
20	chr6:29648225-29648275	ovcar-3	ovarian:	n/a
21	chr6:29648225-29648275	SK-N-SH	brain:	n/a
22	chr6:29648225-29648275	GM06990	blood:	n/a
23	chr6:29648225-29648275	Hepatocyte	liver:	n/a
24	chr6:29648225-29648275	HMEC	breast:	n/a
25	chr6:29648225-29648275	GM12878	blood:	n/a
26	chr6:29648225-29648275	HRCEpiC	kidney:	n/a
27	chr6:29648225-29648275	HRE	kidney:	n/a
28	chr6:29648225-29648275	ECC-1	luminal epithelium:	n/a
29	chr6:29648225-29648275	SK-N-SH_RA	brain:	n/a
30	chr6:29648225-29648275	HEEpiC	esophagus:	n/a
31	chr6:29648225-29648275	NHBE	bronchial:	n/a
32	chr6:29648225-29648275	HUVEC	blood vessel:	n/a
33	chr6:29648225-29648275	HNPCEpiC	eye:	n/a
34	chr6:29648225-29648275	HAEpiC	amniotic membrane:	n/a
35	chr6:29648225-29648275	MCF-7	breast:	n/a
36	chr6:29648225-29648275	MCF10A-Er-Src	breast:	n/a
37	chr6:29648225-29648275	GM19239	blood:	n/a
38	chr6:29648225-29648275	Hela-S3	cervix:	n/a
39	chr6:29648225-29648275	AoSMC	blood vessel:	n/a
40	chr6:29648225-29648275	Jurkat	blood:	n/a
41	chr6:29648225-29648275	SK-N-MC	brain:	n/a
42	chr6:29648225-29648275	SAEC	small airway:	n/a
43	chr6:29648225-29648275	AG04449	skin:	fetal
44	chr6:29648225-29648275	NH-A	brain:	n/a
45	chr6:29648225-29648275	GM12891	blood:	n/a
46	chr6:29648225-29648275	HIPEpiC	eye:	n/a
47	chr6:29648225-29648275	U87	brain:	n/a
48	chr6:29648225-29648275	HL-60	blood:	n/a
49	chr6:29648225-29648275	HPAEpiC	pulmonary alveolar:	n/a
50	chr6:29648225-29648275	BE2_C	brain:	n/a

No data

Variant related genes	Relation type
ZFP57	TF binding region
ZFP57	CpG island

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	esv2758039	chr6:29469101-29672665	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv2759411	chr6:29469101-29672665	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv883530	chr6:29645038-29677641	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv10808	chr6:29648051-29653183	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29625000-29663600	Weak transcription	Right Atrium	heart
2	chr6:29643000-29648800	Enhancers	HMEC	breast
3	chr6:29643200-29648400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:29643400-29648400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:29645200-29648400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:29646000-29648400	Flanking Active TSS	NHEK	skin
7	chr6:29646000-29648800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:29646000-29651400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:29646200-29651400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:29646200-29651400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr6:29646400-29648400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:29646800-29651400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr6:29647000-29649600	Weak transcription	Spleen	Spleen
14	chr6:29647000-29651400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr6:29647000-29651400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:29647400-29651600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:29647600-29649200	Active TSS	Fetal Heart	heart
18	chr6:29647800-29648800	Flanking Bivalent TSS/Enh	Placenta	Placenta
19	chr6:29647800-29649000	Bivalent/Poised TSS	Colonic Mucosa	Colon
20	chr6:29648000-29648600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:29648000-29648800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:29648000-29648800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:29648000-29649200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
24	chr6:29648000-29649200	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
25	chr6:29648000-29651400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr6:29648200-29648400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:29648200-29648400	Bivalent/Poised TSS	Primary B cells from peripheral blood	blood
28	chr6:29648200-29648600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:29648200-29648600	Flanking Bivalent TSS/Enh	K562	blood
30	chr6:29648200-29648600	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
31	chr6:29648200-29648800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
32	chr6:29648200-29649000	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr6:29648200-29649000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
34	chr6:29648200-29649000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:29648200-29649000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:29648200-29649200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
37	chr6:29648200-29651400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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