Variant report

Variant	rs138709472
Chromosome Location	chr5:37835515-37835516
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:37835508-37835805	SK-N-SH	brain:	n/a	n/a
2	TAF1	chr5:37835402-37835625	SK-N-SH	brain:	n/a	n/a
3	E2F6	chr5:37834588-37835735	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:37835506-37835556	HPAEpiC	pulmonary alveolar:	n/a
2	chr5:37835506-37835556	NH-A	brain:	n/a
3	chr5:37835506-37835556	SK-N-SH	brain:	n/a
4	chr5:37835506-37835556	CMK	blood:	n/a
5	chr5:37835506-37835556	PrEC	prostate:	n/a
6	chr5:37835506-37835556	HIPEpiC	eye:	n/a
7	chr5:37835506-37835556	HL-60	blood:	n/a
8	chr5:37835506-37835556	AG04450	lung:	fetal
9	chr5:37835506-37835556	GM12878	blood:	n/a
10	chr5:37835506-37835556	GM06990	blood:	n/a
11	chr5:37835506-37835556	GM19239	blood:	n/a
12	chr5:37835506-37835556	ECC-1	luminal epithelium:	n/a
13	chr5:37835506-37835556	PANC-1	pancreas:	n/a
14	chr5:37835506-37835556	IMR90	lung:	fetal
15	chr5:37835506-37835556	ovcar-3	ovarian:	n/a
16	chr5:37835506-37835556	Caco-2	colon:	n/a
17	chr5:37835506-37835556	U87	brain:	n/a
18	chr5:37835506-37835556	RPTEC	kidney:	n/a
19	chr5:37835506-37835556	HEEpiC	esophagus:	n/a
20	chr5:37835506-37835556	Jurkat	blood:	n/a
21	chr5:37835506-37835556	HCPEpiC	choroid plexus:	n/a
22	chr5:37835506-37835556	BJ	skin:	n/a
23	chr5:37835506-37835556	HNPCEpiC	eye:	n/a
24	chr5:37835506-37835556	AoSMC	blood vessel:	n/a
25	chr5:37835506-37835556	AG09319	gingival:	n/a
26	chr5:37835506-37835556	T-47D	breast:	n/a
27	chr5:37835506-37835556	HCF	heart:	n/a
28	chr5:37835506-37835556	BE2_C	brain:	n/a
29	chr5:37835506-37835556	HAEpiC	amniotic membrane:	n/a
30	chr5:37835506-37835556	HUVEC	blood vessel:	n/a
31	chr5:37835506-37835556	AG09309	skin:	n/a
32	chr5:37835506-37835556	ProgFib	skin:	n/a
33	chr5:37835506-37835556	HMEC	breast:	n/a
34	chr5:37835506-37835556	SKMC	muscle:	n/a
35	chr5:37835506-37835556	MCF10A-Er-Src	breast:	n/a
36	chr5:37835506-37835556	PFSK-1	brain:	n/a
37	chr5:37835506-37835556	HRPEpiC	eye:	n/a
38	chr5:37835506-37835556	SK-N-MC	brain:	n/a
39	chr5:37835506-37835556	K562	blood:	n/a
40	chr5:37835506-37835556	NHDF-neo	bronchial:	n/a
41	chr5:37835506-37835556	NHBE	bronchial:	n/a
42	chr5:37835506-37835556	H1-hESC	embryonic stem cell:	embryo
43	chr5:37835506-37835556	Hela-S3	cervix:	n/a
44	chr5:37835506-37835556	LNCaP	prostate:	n/a
45	chr5:37835506-37835556	HCT-116	colon:	n/a
46	chr5:37835506-37835556	MCF-7	breast:	n/a
47	chr5:37835506-37835556	HEK293	kidney:	embryo
48	chr5:37835506-37835556	AG10803	skin:	n/a
49	chr5:37835506-37835556	NT2-D1	testis:	n/a
50	chr5:37835506-37835556	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37834038..37837439-chr5:37839505..37841588,3	MCF-7	breast:

No data

Variant related genes	Relation type
GDNF	TF binding region
GDNF	CpG island
ENSG00000168621	Chromatin interaction
ENSG00000248587	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	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	esv1844348	chr5:37835398-37840642	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1851519	chr5:37835398-37840642	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37833400-37836600	Weak transcription	NHEK	skin
2	chr5:37834200-37835600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:37834200-37836600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
4	chr5:37834200-37837800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
5	chr5:37834200-37838200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
6	chr5:37834200-37838400	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr5:37834200-37839000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:37834200-37841000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr5:37834400-37835600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr5:37834400-37836000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:37834400-37836400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
12	chr5:37834400-37836800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:37834400-37836800	Bivalent Enhancer	Placenta	Placenta
14	chr5:37834400-37838800	Active TSS	Colon Smooth Muscle	Colon
15	chr5:37834400-37840600	Bivalent Enhancer	Fetal Brain Male	brain
16	chr5:37834400-37841400	Bivalent/Poised TSS	Colonic Mucosa	Colon
17	chr5:37834600-37835600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr5:37834600-37836200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr5:37834600-37836400	Weak transcription	HSMMtube	muscle
20	chr5:37834600-37836600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
21	chr5:37834600-37837800	Active TSS	Rectal Smooth Muscle	rectum
22	chr5:37834800-37835600	Bivalent Enhancer	Spleen	Spleen
23	chr5:37834800-37835600	Flanking Active TSS	NH-A	brain
24	chr5:37834800-37836800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
25	chr5:37835000-37835600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
26	chr5:37835000-37835600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
27	chr5:37835000-37835800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
28	chr5:37835000-37836000	Bivalent Enhancer	Fetal Brain Female	brain
29	chr5:37835000-37836600	Weak transcription	Right Atrium	heart
30	chr5:37835000-37839800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
31	chr5:37835200-37835600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
32	chr5:37835200-37835600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:37835200-37835600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:37835200-37835600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr5:37835200-37835600	Bivalent Enhancer	Right Ventricle	heart
36	chr5:37835200-37836400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:37835200-37836400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
38	chr5:37835200-37836400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr5:37835200-37836400	Weak transcription	Pancreas	Pancrea
40	chr5:37835200-37836600	Weak transcription	Gastric	stomach
41	chr5:37835200-37836600	Weak transcription	Ovary	ovary
42	chr5:37835200-37837000	Flanking Active TSS	Osteobl	bone
43	chr5:37835400-37835600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:37835400-37835600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:37835400-37835600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
46	chr5:37835400-37835600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
47	chr5:37835400-37835600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:37835400-37835600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:37835400-37835800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:37835400-37835800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell

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