Variant report

Variant	rs560006182
Chromosome Location	chr1:75198417-75198418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:120)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:120 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RELA	chr1:75196976-75199695	GM19193	blood:	n/a	n/a
2	POU2F2	chr1:75198309-75199248	GM12878	blood:	n/a	n/a
3	MXI1	chr1:75198396-75199698	HepG2	liver:	n/a	n/a
4	YY1	chr1:75198382-75199252	GM12892	blood:	n/a	chr1:75198846-75198868
5	YY1	chr1:75198356-75199272	GM12878	blood:	n/a	chr1:75198846-75198868
6	TBP	chr1:75198394-75199677	H1-hESC	embryonic stem cell:	n/a	n/a
7	RELA	chr1:75197065-75199714	GM15510	blood:	n/a	n/a
8	POLR2A	chr1:75198271-75199697	K562	blood:	n/a	n/a
9	YY1	chr1:75198308-75199357	GM12878	blood:	n/a	chr1:75198846-75198868
10	CTCF	chr1:75198400-75198550	NHDF-neo	bronchial:	n/a	chr1:75198476-75198485
11	POLR2A	chr1:75198280-75199302	GM12892	blood:	n/a	n/a
12	POLR2A	chr1:75198317-75199727	GM12892	blood:	n/a	n/a
13	FOXM1	chr1:75198400-75199698	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:75198304-75199550	HepG2	liver:	n/a	n/a
15	RCOR1	chr1:75198071-75199802	GM12878	blood:	n/a	n/a
16	MAX	chr1:75198301-75199808	HepG2	liver:	n/a	n/a
17	YY1	chr1:75198354-75199327	ECC-1	luminal epithelium:	n/a	chr1:75198846-75198868
18	RELA	chr1:75197077-75199725	GM12891	blood:	n/a	n/a
19	WRNIP1	chr1:75198316-75199620	GM12878	blood:	n/a	n/a
20	CTCF	chr1:75198300-75198450	HepG2	liver:	n/a	n/a
21	RELA	chr1:75196990-75199882	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:75198345-75199714	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr1:75198155-75199687	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr1:75198298-75198595	GM12878	blood:	n/a	n/a
25	SIN3A	chr1:75198056-75199697	H1-hESC	embryonic stem cell:	n/a	n/a
26	MTA3	chr1:75197225-75199820	GM12878	blood:	n/a	n/a
27	POLR2A	chr1:75198348-75199229	GM12891	blood:	n/a	n/a
28	BCLAF1	chr1:75198313-75199218	GM12878	blood:	n/a	n/a
29	RELA	chr1:75197016-75199699	GM19099	blood:	n/a	n/a
30	POLR2A	chr1:75196850-75200950	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:75198405-75199142	PANC-1	pancreas:	n/a	n/a
32	MXI1	chr1:75198369-75200177	IMR90	lung:	n/a	n/a
33	MTA3	chr1:75198303-75199793	GM12878	blood:	n/a	n/a
34	EBF1	chr1:75197606-75198573	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:75197951-75199663	GM12892	blood:	n/a	n/a
36	POLR2A	chr1:75196955-75199695	HepG2	liver:	n/a	n/a
37	POLR2A	chr1:75196987-75201662	GM12891	blood:	n/a	n/a
38	POLR2A	chr1:75198405-75199266	ProgFib	skin:	n/a	n/a
39	POLR2A	chr1:75198354-75199857	PFSK-1	brain:	n/a	n/a
40	RCOR1	chr1:75198394-75199133	K562	blood:	n/a	n/a
41	RELA	chr1:75197115-75200040	GM18505	blood:	n/a	n/a
42	ZNF143	chr1:75198379-75199755	K562	blood:	n/a	n/a
43	TAF1	chr1:75198292-75199379	ECC-1	luminal epithelium:	n/a	n/a
44	MAX	chr1:75198377-75199292	K562	blood:	n/a	n/a
45	POLR2A	chr1:75198268-75199689	NB4	blood:	n/a	n/a
46	POLR2A	chr1:75198331-75199842	K562	blood:	n/a	n/a
47	POLR2A	chr1:75198066-75199661	GM18526	blood:	n/a	n/a
48	CTCF	chr1:75198380-75198530	AG04449	skin:	n/a	chr1:75198476-75198485
49	MAZ	chr1:75197982-75199768	GM12878	blood:	n/a	n/a
50	PAX5	chr1:75197505-75199249	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:75198403-75198453	HPAEpiC	pulmonary alveolar:	n/a
2	chr1:75198403-75198453	PrEC	prostate:	n/a
3	chr1:75198403-75198453	IMR90	lung:	fetal
4	chr1:75198403-75198453	A549	lung:	n/a
5	chr1:75198403-75198453	HRCEpiC	kidney:	n/a
6	chr1:75198403-75198453	GM06990	blood:	n/a
7	chr1:75198403-75198453	AG09309	skin:	n/a
8	chr1:75198403-75198453	NH-A	brain:	n/a
9	chr1:75198403-75198453	HCT-116	colon:	n/a
10	chr1:75198403-75198453	RPTEC	kidney:	n/a
11	chr1:75198403-75198453	GM19239	blood:	n/a
12	chr1:75198403-75198453	HRE	kidney:	n/a
13	chr1:75198403-75198453	HEK293	kidney:	embryo
14	chr1:75198403-75198453	GM12892	blood:	n/a
15	chr1:75198403-75198453	AG09319	gingival:	n/a
16	chr1:75198403-75198453	HIPEpiC	eye:	n/a
17	chr1:75198403-75198453	HAEpiC	amniotic membrane:	n/a
18	chr1:75198403-75198453	MCF10A-Er-Src	breast:	n/a
19	chr1:75198403-75198453	Caco-2	colon:	n/a
20	chr1:75198403-75198453	SAEC	small airway:	n/a
21	chr1:75198403-75198453	HRPEpiC	eye:	n/a
22	chr1:75198403-75198453	PFSK-1	brain:	n/a
23	chr1:75198403-75198453	SKMC	muscle:	n/a
24	chr1:75198403-75198453	K562	blood:	n/a
25	chr1:75198403-75198453	T-47D	breast:	n/a
26	chr1:75198403-75198453	LNCaP	prostate:	n/a
27	chr1:75198403-75198453	HEEpiC	esophagus:	n/a
28	chr1:75198403-75198453	ECC-1	luminal epithelium:	n/a
29	chr1:75198403-75198453	MCF-7	breast:	n/a
30	chr1:75198403-75198453	BJ	skin:	n/a
31	chr1:75198403-75198453	Hela-S3	cervix:	n/a
32	chr1:75198403-75198453	SK-N-SH_RA	brain:	n/a
33	chr1:75198403-75198453	HCM	heart:	n/a
34	chr1:75198403-75198453	CMK	blood:	n/a
35	chr1:75198403-75198453	NHDF-neo	bronchial:	n/a
36	chr1:75198403-75198453	GM12878	blood:	n/a
37	chr1:75198403-75198453	HL-60	blood:	n/a
38	chr1:75198403-75198453	BE2_C	brain:	n/a
39	chr1:75198403-75198453	PANC-1	pancreas:	n/a
40	chr1:75198403-75198453	AoSMC	blood vessel:	n/a
41	chr1:75198403-75198453	NT2-D1	testis:	n/a
42	chr1:75198403-75198453	HCPEpiC	choroid plexus:	n/a
43	chr1:75198403-75198453	AG10803	skin:	n/a
44	chr1:75198403-75198453	ProgFib	skin:	n/a
45	chr1:75198403-75198453	ovcar-3	ovarian:	n/a
46	chr1:75198403-75198453	NB4	blood:	n/a
47	chr1:75198403-75198453	H1-hESC	embryonic stem cell:	embryo
48	chr1:75198403-75198453	HMEC	breast:	n/a
49	chr1:75198403-75198453	HNPCEpiC	eye:	n/a
50	chr1:75198403-75198453	SK-N-MC	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:75197640..75200637-chr1:75200867..75204722,5	MCF-7	breast:
2	chr1:75198241..75199185-chr6:89791480..89792312,2	Hela-S3	cervix:
3	chr1:75197237..75200127-chr1:76254006..76255529,2	K562	blood:
4	chr1:75197578..75200968-chr1:75201632..75206969,6	MCF-7	breast:

No data

Variant related genes	Relation type
TYW3	TF binding region
TYW3	CpG island
ENSG00000201487	Chromatin interaction
ENSG00000146278	Chromatin interaction
ENSG00000162623	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	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1851105	chr1:75152186-75302921	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1838134	chr1:75197533-75198602	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
6	nsv546579	chr1:75197533-75200486	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
7	esv10394	chr1:75198172-75198656	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75195600-75200400	Active TSS	A549	lung
2	chr1:75196400-75199600	Active TSS	Fetal Kidney	kidney
3	chr1:75196800-75198600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:75196800-75200000	Active TSS	Fetal Intestine Large	intestine
5	chr1:75197000-75199000	Active TSS	Stomach Smooth Muscle	stomach
6	chr1:75197000-75199600	Active TSS	Fetal Intestine Small	intestine
7	chr1:75197000-75199600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:75197200-75199600	Active TSS	Pancreas	Pancrea
9	chr1:75197200-75199800	Active TSS	Colonic Mucosa	Colon
10	chr1:75197200-75200000	Active TSS	Right Atrium	heart
11	chr1:75197200-75200400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr1:75197400-75200000	Active TSS	Osteobl	bone
13	chr1:75197600-75199600	Active TSS	Left Ventricle	heart
14	chr1:75197600-75199600	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr1:75197600-75199800	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr1:75197600-75199800	Active TSS	Aorta	Aorta
17	chr1:75197600-75200000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:75197600-75200000	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr1:75197600-75200000	Active TSS	Muscle Satellite Cultured Cells	--
20	chr1:75197600-75200000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:75197600-75200200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:75197600-75200200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:75197600-75200200	Active TSS	Ovary	ovary
24	chr1:75197600-75200400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:75197600-75200600	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr1:75197800-75198800	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr1:75197800-75199600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:75197800-75199600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr1:75197800-75199600	Active TSS	Liver	Liver
30	chr1:75197800-75199600	Active TSS	Colon Smooth Muscle	Colon
31	chr1:75197800-75199600	Active TSS	Duodenum Mucosa	Duodenum
32	chr1:75197800-75199600	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr1:75197800-75199600	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr1:75197800-75199600	Active TSS	Rectal Smooth Muscle	rectum
35	chr1:75197800-75199800	Active TSS	NHEK	skin
36	chr1:75197800-75200000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:75197800-75200000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:75197800-75200200	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr1:75197800-75200200	Active TSS	NHDF-Ad	bronchial
40	chr1:75197800-75200800	Active TSS	NHLF	lung
41	chr1:75197800-75201800	Active TSS	GM12878-XiMat	blood
42	chr1:75198000-75198600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr1:75198000-75198600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr1:75198000-75198800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:75198000-75198800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr1:75198000-75198800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr1:75198000-75198800	Flanking Active TSS	Placenta	Placenta
48	chr1:75198000-75199400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:75198000-75199600	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr1:75198000-75199600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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