Variant report

Variant	rs544062024
Chromosome Location	chr1:75198632-75198633
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:314)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr1:75198458-75198848	GM12878	blood:	n/a	n/a
2	CUX1	chr1:75198508-75199670	K562	blood:	n/a	n/a
3	MYC	chr1:75198487-75199709	MCF10A-Er-Src	breast:	n/a	n/a
4	RELA	chr1:75196976-75199695	GM19193	blood:	n/a	n/a
5	POU2F2	chr1:75198309-75199248	GM12878	blood:	n/a	n/a
6	CEBPB	chr1:75198629-75199853	Hela-S3	cervix:	n/a	n/a
7	YY1	chr1:75198623-75199148	GM12891	blood:	n/a	chr1:75198846-75198868
8	TCF12	chr1:75198536-75199185	ECC-1	luminal epithelium:	n/a	n/a
9	HCFC1	chr1:75198603-75199689	K562	blood:	n/a	n/a
10	MXI1	chr1:75198396-75199698	HepG2	liver:	n/a	n/a
11	POLR2A	chr1:75198518-75199171	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:75198449-75199272	HUVEC	blood vessel:	n/a	n/a
13	YY1	chr1:75198382-75199252	GM12892	blood:	n/a	chr1:75198846-75198868
14	UBTF	chr1:75198452-75199278	K562	blood:	n/a	n/a
15	POLR2A	chr1:75198502-75199235	MCF-7	breast:	n/a	n/a
16	CHD2	chr1:75198621-75199245	HepG2	liver:	n/a	n/a
17	YY1	chr1:75198356-75199272	GM12878	blood:	n/a	chr1:75198846-75198868
18	NR2F2	chr1:75198512-75199167	K562	blood:	n/a	n/a
19	MAX	chr1:75198539-75199179	MCF-7	breast:	n/a	n/a
20	TBP	chr1:75198394-75199677	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr1:75198552-75199266	ECC-1	luminal epithelium:	n/a	n/a
22	HEY1	chr1:75198505-75199202	HepG2	liver:	n/a	n/a
23	POLR2A	chr1:75198543-75199222	MCF-7	breast:	n/a	n/a
24	RELA	chr1:75197065-75199714	GM15510	blood:	n/a	n/a
25	POLR2A	chr1:75198538-75199260	ECC-1	luminal epithelium:	n/a	n/a
26	ELF1	chr1:75198601-75199129	HepG2	liver:	n/a	n/a
27	POLR2A	chr1:75198271-75199697	K562	blood:	n/a	n/a
28	POLR2A	chr1:75198566-75199107	SK-N-SH	brain:	n/a	n/a
29	YY1	chr1:75198308-75199357	GM12878	blood:	n/a	chr1:75198846-75198868
30	MAZ	chr1:75198620-75199645	HepG2	liver:	n/a	n/a
31	YY1	chr1:75198514-75199259	HepG2	liver:	n/a	chr1:75198846-75198868
32	REST	chr1:75198518-75199406	A549	lung:	n/a	n/a
33	MXI1	chr1:75198512-75199712	Hela-S3	cervix:	n/a	n/a
34	POU2F2	chr1:75198584-75199197	GM12891	blood:	n/a	n/a
35	POLR2A	chr1:75198280-75199302	GM12892	blood:	n/a	n/a
36	YY1	chr1:75198586-75199354	HepG2	liver:	n/a	chr1:75198846-75198868
37	ELF1	chr1:75198465-75199182	GM12878	blood:	n/a	n/a
38	POLR2A	chr1:75198510-75199668	Hela-S3	cervix:	n/a	n/a
39	SP1	chr1:75198485-75199264	A549	lung:	n/a	chr1:75199108-75199115
40	POLR2A	chr1:75198564-75199282	MCF-7	breast:	n/a	n/a
41	POLR2A	chr1:75198317-75199727	GM12892	blood:	n/a	n/a
42	MAX	chr1:75198425-75199266	A549	lung:	n/a	n/a
43	FOXM1	chr1:75198400-75199698	GM12878	blood:	n/a	n/a
44	YY1	chr1:75198507-75199675	SK-N-SH_RA	brain:	n/a	chr1:75198846-75198868
45	POLR2A	chr1:75198430-75199823	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr1:75198304-75199550	HepG2	liver:	n/a	n/a
47	RCOR1	chr1:75198071-75199802	GM12878	blood:	n/a	n/a
48	MAX	chr1:75198301-75199808	HepG2	liver:	n/a	n/a
49	YY1	chr1:75198354-75199327	ECC-1	luminal epithelium:	n/a	chr1:75198846-75198868
50	TEAD4	chr1:75198514-75199078	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:75198582-75198632	PANC-1	pancreas:	n/a
2	chr1:75198582-75198632	MCF10A-Er-Src	breast:	n/a
3	chr1:75198582-75198632	GM12892	blood:	n/a
4	chr1:75198582-75198632	AG09319	gingival:	n/a
5	chr1:75198599-75198649	ovcar-3	ovarian:	n/a
6	chr1:75198599-75198649	A549	lung:	n/a
7	chr1:75198599-75198649	HCF	heart:	n/a
8	chr1:75198599-75198649	H1-hESC	embryonic stem cell:	embryo
9	chr1:75198582-75198632	SK-N-SH	brain:	n/a
10	chr1:75198599-75198649	HNPCEpiC	eye:	n/a
11	chr1:75198582-75198632	U87	brain:	n/a
12	chr1:75198582-75198632	RPTEC	kidney:	n/a
13	chr1:75198599-75198649	PFSK-1	brain:	n/a
14	chr1:75198599-75198649	BJ	skin:	n/a
15	chr1:75198582-75198632	Hela-S3	cervix:	n/a
16	chr1:75198599-75198649	HCPEpiC	choroid plexus:	n/a
17	chr1:75198582-75198632	NHBE	bronchial:	n/a
18	chr1:75198599-75198649	HL-60	blood:	n/a
19	chr1:75198582-75198632	AG04449	skin:	fetal
20	chr1:75198582-75198632	H1-hESC	embryonic stem cell:	embryo
21	chr1:75198599-75198649	ECC-1	luminal epithelium:	n/a
22	chr1:75198582-75198632	HMEC	breast:	n/a
23	chr1:75198582-75198632	HUVEC	blood vessel:	n/a
24	chr1:75198582-75198632	Hepatocyte	liver:	n/a
25	chr1:75198582-75198632	MCF-7	breast:	n/a
26	chr1:75198599-75198649	GM12891	blood:	n/a
27	chr1:75198599-75198649	Hepatocyte	liver:	n/a
28	chr1:75198582-75198632	HepG2	liver:	n/a
29	chr1:75198599-75198649	AG04450	lung:	fetal
30	chr1:75198582-75198632	HRE	kidney:	n/a
31	chr1:75198582-75198632	ovcar-3	ovarian:	n/a
32	chr1:75198582-75198632	PFSK-1	brain:	n/a
33	chr1:75198599-75198649	NH-A	brain:	n/a
34	chr1:75198582-75198632	SKMC	muscle:	n/a
35	chr1:75198599-75198649	SKMC	muscle:	n/a
36	chr1:75198582-75198632	NH-A	brain:	n/a
37	chr1:75198599-75198649	AG09319	gingival:	n/a
38	chr1:75198599-75198649	HCT-116	colon:	n/a
39	chr1:75198582-75198632	PrEC	prostate:	n/a
40	chr1:75198582-75198632	HCT-116	colon:	n/a
41	chr1:75198582-75198632	SK-N-MC	brain:	n/a
42	chr1:75198599-75198649	HMEC	breast:	n/a
43	chr1:75198599-75198649	NHBE	bronchial:	n/a
44	chr1:75198599-75198649	HRPEpiC	eye:	n/a
45	chr1:75198599-75198649	SK-N-MC	brain:	n/a
46	chr1:75198582-75198632	NT2-D1	testis:	n/a
47	chr1:75198582-75198632	HNPCEpiC	eye:	n/a
48	chr1:75198599-75198649	GM12892	blood:	n/a
49	chr1:75198599-75198649	K562	blood:	n/a
50	chr1:75198599-75198649	HPAEpiC	pulmonary alveolar:	n/a

(count:5 , 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:
5	chr1:75198609..75199364-chr16:46723157..46724066,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
CRYZ	TF binding region
TYW3	TF binding region
TYW3	CpG island
CRYZ	CpG island
ENSG00000091651	Chromatin interaction
ENSG00000069329	Chromatin interaction
ENSG00000201487	Chromatin interaction
ENSG00000162623	Chromatin interaction
ENSG00000146278	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
6	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	chr1:75196800-75200000	Active TSS	Fetal Intestine Large	intestine
4	chr1:75197000-75199000	Active TSS	Stomach Smooth Muscle	stomach
5	chr1:75197000-75199600	Active TSS	Fetal Intestine Small	intestine
6	chr1:75197000-75199600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr1:75197200-75199600	Active TSS	Pancreas	Pancrea
8	chr1:75197200-75199800	Active TSS	Colonic Mucosa	Colon
9	chr1:75197200-75200000	Active TSS	Right Atrium	heart
10	chr1:75197200-75200400	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr1:75197400-75200000	Active TSS	Osteobl	bone
12	chr1:75197600-75199600	Active TSS	Left Ventricle	heart
13	chr1:75197600-75199600	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr1:75197600-75199800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:75197600-75199800	Active TSS	Aorta	Aorta
16	chr1:75197600-75200000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:75197600-75200000	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr1:75197600-75200000	Active TSS	Muscle Satellite Cultured Cells	--
19	chr1:75197600-75200000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:75197600-75200200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:75197600-75200200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:75197600-75200200	Active TSS	Ovary	ovary
23	chr1:75197600-75200400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:75197600-75200600	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr1:75197800-75198800	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr1:75197800-75199600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:75197800-75199600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr1:75197800-75199600	Active TSS	Liver	Liver
29	chr1:75197800-75199600	Active TSS	Colon Smooth Muscle	Colon
30	chr1:75197800-75199600	Active TSS	Duodenum Mucosa	Duodenum
31	chr1:75197800-75199600	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr1:75197800-75199600	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr1:75197800-75199600	Active TSS	Rectal Smooth Muscle	rectum
34	chr1:75197800-75199800	Active TSS	NHEK	skin
35	chr1:75197800-75200000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:75197800-75200000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:75197800-75200200	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr1:75197800-75200200	Active TSS	NHDF-Ad	bronchial
39	chr1:75197800-75200800	Active TSS	NHLF	lung
40	chr1:75197800-75201800	Active TSS	GM12878-XiMat	blood
41	chr1:75198000-75198800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:75198000-75198800	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr1:75198000-75198800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr1:75198000-75198800	Flanking Active TSS	Placenta	Placenta
45	chr1:75198000-75199400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:75198000-75199600	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr1:75198000-75199600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:75198000-75199600	Active TSS	Brain Angular Gyrus	brain
49	chr1:75198000-75199600	Active TSS	Brain Anterior Caudate	brain
50	chr1:75198000-75199600	Active TSS	Gastric	stomach

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