Variant report

Variant	rs563649182
Chromosome Location	chr4:100273995-100273996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr4:100273786-100274058	T-47D	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:100273995-100274045	HEEpiC	esophagus:	n/a
2	chr4:100273995-100274045	HPAEpiC	pulmonary alveolar:	n/a
3	chr4:100273995-100274045	GM12878	blood:	n/a
4	chr4:100273995-100274045	ProgFib	skin:	n/a
5	chr4:100273995-100274045	GM12891	blood:	n/a
6	chr4:100273995-100274045	HEK293	kidney:	embryo
7	chr4:100273995-100274045	SK-N-SH	brain:	n/a
8	chr4:100273995-100274045	NB4	blood:	n/a
9	chr4:100273995-100274045	PrEC	prostate:	n/a
10	chr4:100273995-100274045	GM06990	blood:	n/a
11	chr4:100273995-100274045	HRCEpiC	kidney:	n/a
12	chr4:100273995-100274045	HCT-116	colon:	n/a
13	chr4:100273995-100274045	HUVEC	blood vessel:	n/a
14	chr4:100273995-100274045	HMEC	breast:	n/a
15	chr4:100273995-100274045	NHBE	bronchial:	n/a
16	chr4:100273995-100274045	SAEC	small airway:	n/a
17	chr4:100273995-100274045	GM12892	blood:	n/a
18	chr4:100273995-100274045	AG04449	skin:	fetal
19	chr4:100273995-100274045	Jurkat	blood:	n/a
20	chr4:100273995-100274045	AG09309	skin:	n/a
21	chr4:100273995-100274045	ovcar-3	ovarian:	n/a
22	chr4:100273995-100274045	CMK	blood:	n/a
23	chr4:100273995-100274045	BE2_C	brain:	n/a
24	chr4:100273995-100274045	Hela-S3	cervix:	n/a
25	chr4:100273995-100274045	K562	blood:	n/a
26	chr4:100273995-100274045	BJ	skin:	n/a
27	chr4:100273995-100274045	HCPEpiC	choroid plexus:	n/a
28	chr4:100273995-100274045	HRPEpiC	eye:	n/a
29	chr4:100273995-100274045	NH-A	brain:	n/a
30	chr4:100273995-100274045	AG10803	skin:	n/a
31	chr4:100273995-100274045	PFSK-1	brain:	n/a
32	chr4:100273995-100274045	HCM	heart:	n/a
33	chr4:100273995-100274045	NHDF-neo	bronchial:	n/a
34	chr4:100273995-100274045	ECC-1	luminal epithelium:	n/a
35	chr4:100273995-100274045	HIPEpiC	eye:	n/a
36	chr4:100273995-100274045	HCF	heart:	n/a
37	chr4:100273995-100274045	SK-N-SH_RA	brain:	n/a
38	chr4:100273995-100274045	T-47D	breast:	n/a
39	chr4:100273995-100274045	HNPCEpiC	eye:	n/a
40	chr4:100273995-100274045	GM19239	blood:	n/a
41	chr4:100273995-100274045	U87	brain:	n/a
42	chr4:100273995-100274045	HL-60	blood:	n/a
43	chr4:100273995-100274045	AoSMC	blood vessel:	n/a
44	chr4:100273995-100274045	IMR90	lung:	fetal
45	chr4:100273995-100274045	HRE	kidney:	n/a
46	chr4:100273995-100274045	Hepatocyte	liver:	n/a
47	chr4:100273995-100274045	HepG2	liver:	n/a
48	chr4:100273995-100274045	SKMC	muscle:	n/a
49	chr4:100273995-100274045	AG09319	gingival:	n/a
50	chr4:100273995-100274045	RPTEC	kidney:	n/a

No data

Variant related genes	Relation type
ADH1C	TF binding region
ADH1C	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv3355763	chr4:100070566-100376814	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1014237	chr4:100102701-100365700	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1010988	chr4:100105463-100444445	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1000659	chr4:100117276-100444445	Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv999549	chr4:100121609-100351749	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3353320	chr4:100147870-100425701	Genic enhancers ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3394995	chr4:100147890-100425671	Enhancers Genic enhancers Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1002809	chr4:100234048-100285508	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv528518	chr4:100258155-100274749	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv879659	chr4:100260789-100349135	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv3420705	chr4:100273129-100277327	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100245800-100274200	Weak transcription	Pancreas	Pancrea
2	chr4:100264800-100274200	Weak transcription	Gastric	stomach
3	chr4:100268200-100274200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:100271000-100274000	Active TSS	Duodenum Mucosa	Duodenum
5	chr4:100271000-100274000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr4:100271600-100274000	Active TSS	Fetal Kidney	kidney
7	chr4:100271600-100274600	Active TSS	Rectal Smooth Muscle	rectum
8	chr4:100271800-100274200	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr4:100272200-100274200	Weak transcription	Colonic Mucosa	Colon
10	chr4:100272600-100274000	Active TSS	Fetal Intestine Large	intestine
11	chr4:100273000-100274200	Weak transcription	Stomach Mucosa	stomach
12	chr4:100273200-100274200	Weak transcription	Fetal Stomach	stomach
13	chr4:100273600-100274600	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr4:100273800-100274000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:100273800-100274000	Flanking Active TSS	Fetal Intestine Small	intestine
16	chr4:100273800-100274000	Flanking Active TSS	Ovary	ovary
17	chr4:100273800-100274200	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr4:100273800-100274200	Active TSS	Fetal Muscle Trunk	muscle
19	chr4:100273800-100274200	Active TSS	Psoas Muscle	Psoas
20	chr4:100273800-100274400	Enhancers	Colon Smooth Muscle	Colon
21	chr4:100273800-100274400	Active TSS	Right Atrium	heart
22	chr4:100273800-100274600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:100273800-100274600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:100273800-100274800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:100273800-100274800	Flanking Active TSS	Liver	Liver
26	chr4:100273800-100274800	Flanking Active TSS	Fetal Lung	lung
27	chr4:100273800-100275000	Enhancers	Fetal Muscle Leg	muscle

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