Variant report

Variant	rs114013701
Chromosome Location	chr6:29648490-29648491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:29648334-29648564	GM12891	blood:	n/a	n/a
2	POLR2A	chr6:29648195-29649120	GM18951	blood:	n/a	n/a
3	CTCF	chr6:29648340-29648490	GM12878	blood:	n/a	chr6:29648349-29648358
4	POLR2A	chr6:29647749-29649223	GM12891	blood:	n/a	n/a
5	POLR2A	chr6:29648091-29648540	GM12891	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29648452-29648502	PrEC	prostate:	n/a
2	chr6:29648468-29648518	ovcar-3	ovarian:	n/a
3	chr6:29648468-29648518	SK-N-MC	brain:	n/a
4	chr6:29648468-29648518	AG04449	skin:	fetal
5	chr6:29648452-29648502	HUVEC	blood vessel:	n/a
6	chr6:29648468-29648518	HUVEC	blood vessel:	n/a
7	chr6:29648468-29648518	K562	blood:	n/a
8	chr6:29648468-29648518	Hepatocyte	liver:	n/a
9	chr6:29648452-29648502	Jurkat	blood:	n/a
10	chr6:29648468-29648518	SAEC	small airway:	n/a
11	chr6:29648452-29648502	T-47D	breast:	n/a
12	chr6:29648468-29648518	H1-hESC	embryonic stem cell:	embryo
13	chr6:29648468-29648518	HIPEpiC	eye:	n/a
14	chr6:29648452-29648502	HPAEpiC	pulmonary alveolar:	n/a
15	chr6:29648452-29648502	HEK293	kidney:	embryo
16	chr6:29648452-29648502	H1-hESC	embryonic stem cell:	embryo
17	chr6:29648468-29648518	AG09309	skin:	n/a
18	chr6:29648468-29648518	AoSMC	blood vessel:	n/a
19	chr6:29648452-29648502	HCT-116	colon:	n/a
20	chr6:29648452-29648502	HepG2	liver:	n/a
21	chr6:29648468-29648518	HRPEpiC	eye:	n/a
22	chr6:29648452-29648502	AG09309	skin:	n/a
23	chr6:29648452-29648502	HCPEpiC	choroid plexus:	n/a
24	chr6:29648452-29648502	AoSMC	blood vessel:	n/a
25	chr6:29648468-29648518	PANC-1	pancreas:	n/a
26	chr6:29648452-29648502	GM12878	blood:	n/a
27	chr6:29648452-29648502	Caco-2	colon:	n/a
28	chr6:29648452-29648502	HEEpiC	esophagus:	n/a
29	chr6:29648452-29648502	K562	blood:	n/a
30	chr6:29648468-29648518	HepG2	liver:	n/a
31	chr6:29648452-29648502	SK-N-SH	brain:	n/a
32	chr6:29648452-29648502	LNCaP	prostate:	n/a
33	chr6:29648452-29648502	SAEC	small airway:	n/a
34	chr6:29648468-29648518	GM19239	blood:	n/a
35	chr6:29648452-29648502	HNPCEpiC	eye:	n/a
36	chr6:29648468-29648518	HCM	heart:	n/a
37	chr6:29648452-29648502	IMR90	lung:	fetal
38	chr6:29648468-29648518	HAEpiC	amniotic membrane:	n/a
39	chr6:29648468-29648518	HMEC	breast:	n/a
40	chr6:29648452-29648502	ECC-1	luminal epithelium:	n/a
41	chr6:29648468-29648518	NHBE	bronchial:	n/a
42	chr6:29648452-29648502	HCF	heart:	n/a
43	chr6:29648452-29648502	AG09319	gingival:	n/a
44	chr6:29648452-29648502	SK-N-MC	brain:	n/a
45	chr6:29648468-29648518	AG10803	skin:	n/a
46	chr6:29648468-29648518	Caco-2	colon:	n/a
47	chr6:29648468-29648518	NT2-D1	testis:	n/a
48	chr6:29648452-29648502	Hepatocyte	liver:	n/a
49	chr6:29648452-29648502	NHBE	bronchial:	n/a
50	chr6:29648468-29648518	HPAEpiC	pulmonary alveolar:	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:40 , 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	chr6:29646000-29648800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:29646000-29651400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:29646200-29651400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:29646200-29651400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:29646800-29651400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:29647000-29649600	Weak transcription	Spleen	Spleen
9	chr6:29647000-29651400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:29647000-29651400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:29647400-29651600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:29647600-29649200	Active TSS	Fetal Heart	heart
13	chr6:29647800-29648800	Flanking Bivalent TSS/Enh	Placenta	Placenta
14	chr6:29647800-29649000	Bivalent/Poised TSS	Colonic Mucosa	Colon
15	chr6:29648000-29648600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:29648000-29648800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:29648000-29648800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:29648000-29649200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
19	chr6:29648000-29649200	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
20	chr6:29648000-29651400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:29648200-29648600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:29648200-29648600	Flanking Bivalent TSS/Enh	K562	blood
23	chr6:29648200-29648600	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
24	chr6:29648200-29648800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
25	chr6:29648200-29649000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr6:29648200-29649000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
27	chr6:29648200-29649000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:29648200-29649000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:29648200-29649200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
30	chr6:29648200-29651400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr6:29648400-29648600	Active TSS	Primary hematopoietic stem cells	blood
32	chr6:29648400-29648600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:29648400-29648600	Bivalent/Poised TSS	Adipose Nuclei	Adipose
34	chr6:29648400-29648800	Active TSS	Primary B cells from peripheral blood	blood
35	chr6:29648400-29648800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:29648400-29648800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
37	chr6:29648400-29649000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr6:29648400-29649000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr6:29648400-29649200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:29648400-29649200	Active TSS	NHEK	skin

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