Variant report

Variant	rs537973306
Chromosome Location	chr1:47901674-47901675
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr1:47901500-47901748	ECC-1	luminal epithelium:	n/a	chr1:47901615-47901624
2	REST	chr1:47901468-47901732	Hela-S3	cervix:	n/a	chr1:47901615-47901624
3	CTCF	chr1:47901580-47901730	HRPEpiC	eye:	n/a	n/a
4	CTCF	chr1:47901660-47901810	GM12872	blood:	n/a	n/a
5	RAD21	chr1:47901592-47902663	SK-N-SH	brain:	n/a	chr1:47902581-47902591 chr1:47902581-47902593
6	POLR2A	chr1:47901496-47901686	MCF10A-Er-Src	breast:	n/a	n/a
7	CTCF	chr1:47901600-47901750	HPF	lung:	n/a	n/a
8	CTCF	chr1:47901580-47901730	HCFaa	heart:	n/a	n/a
9	MAFK	chr1:47901600-47901701	HepG2	liver:	n/a	chr1:47901659-47901679
10	CTCF	chr1:47901673-47901677	K562	blood:	n/a	n/a
11	CTCF	chr1:47901600-47901750	HCPEpiC	choroid plexus:	n/a	n/a
12	CTCF	chr1:47901540-47901690	AG10803	skin:	n/a	n/a
13	REST	chr1:47901461-47901685	Hela-S3	cervix:	n/a	chr1:47901615-47901624
14	REST	chr1:47901497-47901676	SK-N-SH	brain:	n/a	chr1:47901615-47901624
15	REST	chr1:47901492-47901738	H1-hESC	embryonic stem cell:	n/a	chr1:47901615-47901624

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:47901632-47901682	HCF	heart:	n/a
2	chr1:47901632-47901682	SKMC	muscle:	n/a
3	chr1:47901632-47901682	AG10803	skin:	n/a
4	chr1:47901632-47901682	HEEpiC	esophagus:	n/a
5	chr1:47901632-47901682	BE2_C	brain:	n/a
6	chr1:47901632-47901682	NH-A	brain:	n/a
7	chr1:47901632-47901682	HCT-116	colon:	n/a
8	chr1:47901632-47901682	PFSK-1	brain:	n/a
9	chr1:47901632-47901682	H1-hESC	embryonic stem cell:	embryo
10	chr1:47901632-47901682	NT2-D1	testis:	n/a
11	chr1:47901632-47901682	HMEC	breast:	n/a
12	chr1:47901632-47901682	SK-N-MC	brain:	n/a
13	chr1:47901632-47901682	NB4	blood:	n/a
14	chr1:47901632-47901682	AoSMC	blood vessel:	n/a
15	chr1:47901632-47901682	HUVEC	blood vessel:	n/a
16	chr1:47901632-47901682	HIPEpiC	eye:	n/a
17	chr1:47901632-47901682	AG09319	gingival:	n/a
18	chr1:47901632-47901682	GM19239	blood:	n/a
19	chr1:47901632-47901682	BJ	skin:	n/a
20	chr1:47901632-47901682	SK-N-SH	brain:	n/a
21	chr1:47901632-47901682	HepG2	liver:	n/a
22	chr1:47901632-47901682	A549	lung:	n/a
23	chr1:47901632-47901682	U87	brain:	n/a
24	chr1:47901632-47901682	IMR90	lung:	fetal
25	chr1:47901632-47901682	HCM	heart:	n/a
26	chr1:47901632-47901682	GM12891	blood:	n/a
27	chr1:47901632-47901682	AG09309	skin:	n/a
28	chr1:47901632-47901682	RPTEC	kidney:	n/a
29	chr1:47901632-47901682	GM12878	blood:	n/a
30	chr1:47901632-47901682	SK-N-SH_RA	brain:	n/a
31	chr1:47901632-47901682	CMK	blood:	n/a
32	chr1:47901632-47901682	HEK293	kidney:	embryo
33	chr1:47901632-47901682	T-47D	breast:	n/a
34	chr1:47901632-47901682	Caco-2	colon:	n/a
35	chr1:47901632-47901682	LNCaP	prostate:	n/a
36	chr1:47901632-47901682	GM12892	blood:	n/a
37	chr1:47901632-47901682	ProgFib	skin:	n/a
38	chr1:47901632-47901682	SAEC	small airway:	n/a
39	chr1:47901632-47901682	PrEC	prostate:	n/a
40	chr1:47901632-47901682	HRPEpiC	eye:	n/a
41	chr1:47901632-47901682	HPAEpiC	pulmonary alveolar:	n/a
42	chr1:47901632-47901682	AG04449	skin:	fetal
43	chr1:47901632-47901682	Hepatocyte	liver:	n/a
44	chr1:47901632-47901682	HRE	kidney:	n/a
45	chr1:47901632-47901682	GM06990	blood:	n/a
46	chr1:47901632-47901682	AG04450	lung:	fetal
47	chr1:47901632-47901682	HRCEpiC	kidney:	n/a
48	chr1:47901632-47901682	NHBE	bronchial:	n/a
49	chr1:47901632-47901682	PANC-1	pancreas:	n/a
50	chr1:47901632-47901682	HAEpiC	amniotic membrane:	n/a

No data

Variant related genes	Relation type
FOXD2-AS1	TF binding region
FOXD2	TF binding region
FOXD2-AS1	CpG island
FOXD2	CpG island

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	nsv871961	chr1:47875627-47912628	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534956	chr1:47882277-47905486	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv534957	chr1:47882277-47907965	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3432093	chr1:47901465-47906063	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47898800-47902000	Weak transcription	HSMM	muscle
2	chr1:47898800-47902000	Weak transcription	HSMMtube	muscle
3	chr1:47899000-47904400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:47899200-47901800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:47899200-47902200	Weak transcription	Gastric	stomach
6	chr1:47899800-47901800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:47900000-47902000	Enhancers	Aorta	Aorta
8	chr1:47900400-47901800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:47900400-47901800	Enhancers	HMEC	breast
10	chr1:47900400-47902000	Active TSS	Colonic Mucosa	Colon
11	chr1:47900400-47902200	Weak transcription	Lung	lung
12	chr1:47900400-47902200	Weak transcription	Pancreas	Pancrea
13	chr1:47900400-47902200	Weak transcription	Right Atrium	heart
14	chr1:47900600-47901800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:47900600-47902000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr1:47900600-47902000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:47900800-47901800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:47900800-47902000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:47900800-47902000	Bivalent Enhancer	NHEK	skin
20	chr1:47900800-47902000	Weak transcription	NHLF	lung
21	chr1:47901200-47902000	Transcr. at gene 5' and 3'	Dnd41	blood
22	chr1:47901400-47901800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:47901400-47901800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:47901400-47901800	Bivalent Enhancer	Colon Smooth Muscle	Colon
25	chr1:47901400-47901800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
26	chr1:47901400-47902000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:47901400-47902200	Enhancers	Spleen	Spleen
28	chr1:47901400-47902200	Flanking Active TSS	Hela-S3	cervix
29	chr1:47901400-47902400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
30	chr1:47901400-47902800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr1:47901400-47908000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
32	chr1:47901600-47901800	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr1:47901600-47901800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:47901600-47901800	Enhancers	Liver	Liver
35	chr1:47901600-47901800	Enhancers	A549	lung
36	chr1:47901600-47901800	Enhancers	K562	blood
37	chr1:47901600-47902000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
38	chr1:47901600-47902000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:47901600-47902000	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr1:47901600-47902000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:47901600-47902000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
42	chr1:47901600-47902200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr1:47901600-47902200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:47901600-47902200	Flanking Active TSS	HepG2	liver
45	chr1:47901600-47902600	Flanking Active TSS	GM12878-XiMat	blood
46	chr1:47901600-47902800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr1:47901600-47902800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine

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