Variant report

Variant	rs568994080
Chromosome Location	chr1:62207484-62207485
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr1:62207379-62207560	GM12878	blood:	n/a	chr1:62207551-62207559
2	POLR2A	chr1:62207121-62209260	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:62207185-62209561	MCF10A-Er-Src	breast:	n/a	n/a
4	REST	chr1:62207435-62208882	H1-neurons	neurons:	n/a	chr1:62208295-62208308
5	CEBPB	chr1:62207476-62207837	MCF-7	breast:	n/a	chr1:62207579-62207592 chr1:62207579-62207592 chr1:62207581-62207592
6	RCOR1	chr1:62207479-62208309	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr1:62207480-62207630	HMEC	breast:	n/a	n/a
8	ZNF263	chr1:62207363-62209211	HEK293-T-REx	kidney:	n/a	n/a
9	MAX	chr1:62207415-62209080	Hela-S3	cervix:	n/a	chr1:62207998-62208007 chr1:62207923-62207933 chr1:62207582-62207591 chr1:62207695-62207704
10	POLR2A	chr1:62207388-62209264	Hela-S3	cervix:	n/a	n/a
11	RAD21	chr1:62207406-62207694	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr1:62207419-62207749	MCF-7	breast:	n/a	chr1:62207579-62207592 chr1:62207579-62207592 chr1:62207581-62207592
13	POLR2A	chr1:62207411-62208803	H1-neurons	neurons:	n/a	n/a
14	RFX5	chr1:62207412-62207760	Hela-S3	cervix:	n/a	chr1:62207551-62207559
15	MAZ	chr1:62207410-62209181	Hela-S3	cervix:	n/a	chr1:62207998-62208007 chr1:62207923-62207933 chr1:62207582-62207591 chr1:62207695-62207704
16	CEBPB	chr1:62207430-62207751	H1-hESC	embryonic stem cell:	n/a	chr1:62207579-62207592 chr1:62207579-62207592 chr1:62207581-62207592
17	CREB1	chr1:62207349-62208775	HepG2	liver:	n/a	n/a
18	SMC3	chr1:62207392-62208280	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr1:62207072-62209265	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chr1:62207420-62207648	MCF10A-Er-Src	breast:	n/a	chr1:62207582-62207591
21	MAFK	chr1:62207379-62207842	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr1:62207413-62208554	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr1:62207406-62207713	HepG2	liver:	n/a	chr1:62207579-62207592 chr1:62207579-62207592 chr1:62207581-62207592
24	TBP	chr1:62207260-62207880	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr1:62207422-62207668	GM12878	blood:	n/a	n/a
26	CEBPB	chr1:62207379-62207913	Hela-S3	cervix:	n/a	chr1:62207579-62207592 chr1:62207579-62207592 chr1:62207581-62207592
27	BRCA1	chr1:62207338-62207889	Hela-S3	cervix:	n/a	n/a
28	MAZ	chr1:62207285-62209242	IMR90	lung:	n/a	chr1:62207998-62208007 chr1:62207923-62207933 chr1:62207582-62207591 chr1:62207695-62207704
29	TBL1XR1	chr1:62207327-62207527	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:62207439-62208830	HCT-116	colon:	n/a	n/a
31	POLR2A	chr1:62207378-62209045	MCF10A-Er-Src	breast:	n/a	n/a
32	MAX	chr1:62207404-62209178	HCT-116	colon:	n/a	chr1:62207998-62208007 chr1:62207923-62207933 chr1:62207582-62207591 chr1:62207695-62207704

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:62207459-62207509	CMK	blood:	n/a
2	chr1:62207459-62207509	U87	brain:	n/a
3	chr1:62207459-62207509	NH-A	brain:	n/a
4	chr1:62207459-62207509	HIPEpiC	eye:	n/a
5	chr1:62207459-62207509	SAEC	small airway:	n/a
6	chr1:62207459-62207509	GM12892	blood:	n/a
7	chr1:62207459-62207509	HCPEpiC	choroid plexus:	n/a
8	chr1:62207459-62207509	ovcar-3	ovarian:	n/a
9	chr1:62207459-62207509	HUVEC	blood vessel:	n/a
10	chr1:62207459-62207509	Hepatocyte	liver:	n/a
11	chr1:62207459-62207509	NB4	blood:	n/a
12	chr1:62207459-62207509	AG09319	gingival:	n/a
13	chr1:62207459-62207509	BJ	skin:	n/a
14	chr1:62207459-62207509	PFSK-1	brain:	n/a
15	chr1:62207459-62207509	PANC-1	pancreas:	n/a
16	chr1:62207459-62207509	HL-60	blood:	n/a
17	chr1:62207459-62207509	HRE	kidney:	n/a
18	chr1:62207459-62207509	RPTEC	kidney:	n/a
19	chr1:62207459-62207509	SKMC	muscle:	n/a
20	chr1:62207459-62207509	Caco-2	colon:	n/a
21	chr1:62207459-62207509	Hela-S3	cervix:	n/a
22	chr1:62207459-62207509	HRPEpiC	eye:	n/a
23	chr1:62207459-62207509	A549	lung:	n/a
24	chr1:62207459-62207509	GM12878	blood:	n/a
25	chr1:62207459-62207509	HNPCEpiC	eye:	n/a
26	chr1:62207459-62207509	T-47D	breast:	n/a
27	chr1:62207459-62207509	K562	blood:	n/a
28	chr1:62207459-62207509	MCF-7	breast:	n/a
29	chr1:62207459-62207509	HCT-116	colon:	n/a
30	chr1:62207459-62207509	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:62207459-62207509	AG09309	skin:	n/a
32	chr1:62207459-62207509	HMEC	breast:	n/a
33	chr1:62207459-62207509	H1-hESC	embryonic stem cell:	embryo
34	chr1:62207459-62207509	NHDF-neo	bronchial:	n/a
35	chr1:62207459-62207509	MCF10A-Er-Src	breast:	n/a
36	chr1:62207459-62207509	ECC-1	luminal epithelium:	n/a
37	chr1:62207459-62207509	GM12891	blood:	n/a
38	chr1:62207459-62207509	SK-N-SH	brain:	n/a
39	chr1:62207459-62207509	SK-N-SH_RA	brain:	n/a
40	chr1:62207459-62207509	AG04450	lung:	fetal
41	chr1:62207459-62207509	ProgFib	skin:	n/a
42	chr1:62207459-62207509	AG04449	skin:	fetal
43	chr1:62207459-62207509	IMR90	lung:	fetal
44	chr1:62207459-62207509	AG10803	skin:	n/a
45	chr1:62207459-62207509	NT2-D1	testis:	n/a
46	chr1:62207459-62207509	NHBE	bronchial:	n/a
47	chr1:62207459-62207509	BE2_C	brain:	n/a
48	chr1:62207459-62207509	HEEpiC	esophagus:	n/a
49	chr1:62207459-62207509	HCF	heart:	n/a
50	chr1:62207459-62207509	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:62190630..62191606-chr1:62207469..62208515,4	Hela-S3	cervix:
2	chr1:62173080..62176930-chr1:62205875..62209587,4	MCF-7	breast:
3	chr1:62188914..62195188-chr1:62202056..62212232,19	MCF-7	breast:
4	chr1:62207014..62208687-chr8:103424188..103425708,2	MCF-7	breast:
5	chr1:62187463..62192137-chr1:62206143..62210486,9	MCF-7	breast:

Variant related genes	Relation type
INADL	TF binding region
INADL	CpG island
ENSG00000104517	Chromatin interaction
ENSG00000162604	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3422069	chr1:62206889-62209737	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3693319	chr1:62207254-62402549	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62205600-62207800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:62206400-62207600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:62206600-62207600	Flanking Active TSS	Hela-S3	cervix
4	chr1:62206800-62207600	Enhancers	Small Intestine	intestine
5	chr1:62206800-62208000	Bivalent/Poised TSS	HepG2	liver
6	chr1:62207000-62207600	Bivalent Enhancer	Fetal Thymus	thymus
7	chr1:62207000-62209800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:62207200-62207600	Enhancers	Primary B cells from cord blood	blood
9	chr1:62207200-62207600	Enhancers	Primary B cells from peripheral blood	blood
10	chr1:62207200-62207600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr1:62207200-62207600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:62207200-62207600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:62207200-62207600	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr1:62207200-62207600	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr1:62207200-62207600	Flanking Active TSS	Fetal Lung	lung
16	chr1:62207200-62207600	Flanking Active TSS	Rectal Smooth Muscle	rectum
17	chr1:62207200-62207600	Flanking Active TSS	A549	lung
18	chr1:62207200-62207600	Flanking Active TSS	GM12878-XiMat	blood
19	chr1:62207200-62207600	Flanking Active TSS	HMEC	breast
20	chr1:62207200-62207600	Flanking Active TSS	NHEK	skin
21	chr1:62207200-62207800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:62207200-62207800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr1:62207200-62207800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr1:62207200-62207800	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr1:62207200-62207800	Flanking Active TSS	Fetal Kidney	kidney
26	chr1:62207200-62207800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr1:62207200-62208000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:62207200-62208000	Flanking Active TSS	Fetal Brain Male	brain
29	chr1:62207200-62208600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:62207200-62208600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:62207200-62208800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:62207200-62209000	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr1:62207200-62209000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:62207200-62209000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:62207200-62209000	Active TSS	Brain Angular Gyrus	brain
36	chr1:62207200-62209000	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr1:62207200-62209000	Active TSS	Fetal Intestine Small	intestine
38	chr1:62207200-62209000	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr1:62207200-62209000	Active TSS	NHDF-Ad	bronchial
40	chr1:62207200-62209200	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr1:62207200-62209200	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr1:62207200-62209200	Active TSS	Fetal Intestine Large	intestine
43	chr1:62207200-62209400	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr1:62207200-62209400	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr1:62207200-62209600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr1:62207200-62209600	Active TSS	H1 Cell Line	embryonic stem cell
47	chr1:62207200-62209600	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr1:62207200-62209600	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr1:62207200-62209800	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr1:62207400-62207600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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