Variant report

Variant	rs190618774
Chromosome Location	chr5:37839408-37839409
allele	A/G
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	CTBP2	chr5:37839040-37840731	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr5:37838994-37839697	SK-N-SH	brain:	n/a	chr5:37839592-37839602 chr5:37839378-37839388 chr5:37839135-37839145
3	POLR2A	chr5:37839246-37839713	ProgFib	skin:	n/a	n/a
4	MAX	chr5:37838109-37839800	H1-hESC	embryonic stem cell:	n/a	chr5:37839592-37839602 chr5:37839378-37839388 chr5:37839135-37839145
5	MAX	chr5:37838984-37839484	SK-N-SH	brain:	n/a	chr5:37839378-37839388 chr5:37839135-37839145
6	E2F6	chr5:37837818-37839512	H1-hESC	embryonic stem cell:	n/a	chr5:37838340-37838347 chr5:37838955-37838964 chr5:37838113-37838121 chr5:37838400-37838407 chr5:37838739-37838747 chr5:37838340-37838347 chr5:37838739-37838747 chr5:37838112-37838122 chr5:37838663-37838672 chr5:37838113-37838120 chr5:37838340-37838347 chr5:37838113-37838121 chr5:37838112-37838123
7	SUZ12	chr5:37838338-37840103	H1-hESC	embryonic stem cell:	n/a	n/a
8	RCOR1	chr5:37836628-37839609	IMR90	lung:	n/a	n/a
9	MXI1	chr5:37839252-37840328	IMR90	lung:	n/a	chr5:37839378-37839387
10	POLR2A	chr5:37838942-37839868	U87	brain:	n/a	n/a
11	MAZ	chr5:37838894-37841199	IMR90	lung:	n/a	chr5:37839592-37839602 chr5:37840289-37840299 chr5:37839378-37839388 chr5:37839135-37839145
12	POLR2A	chr5:37838948-37839845	U87	brain:	n/a	n/a
13	SIN3AK20	chr5:37839242-37839529	SK-N-SH	brain:	n/a	n/a
14	MAX	chr5:37838245-37839489	H1-hESC	embryonic stem cell:	n/a	chr5:37839378-37839388 chr5:37839135-37839145
15	E2F6	chr5:37836391-37840195	H1-hESC	embryonic stem cell:	n/a	chr5:37838340-37838347 chr5:37838955-37838964 chr5:37838113-37838121 chr5:37838400-37838407 chr5:37839794-37839804 chr5:37838739-37838747 chr5:37836831-37836840 chr5:37839800-37839810 chr5:37839797-37839807 chr5:37839877-37839887 chr5:37837060-37837072 chr5:37838340-37838347 chr5:37838739-37838747 chr5:37838112-37838122 chr5:37838663-37838672 chr5:37838113-37838120 chr5:37838340-37838347 chr5:37838113-37838121 chr5:37838112-37838123
16	GATA3	chr5:37838952-37839564	SK-N-SH	brain:	n/a	n/a
17	MAX	chr5:37838146-37839528	H1-hESC	embryonic stem cell:	n/a	chr5:37839378-37839388 chr5:37839135-37839145

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:37839407-37839457	HIPEpiC	eye:	n/a
2	chr5:37839407-37839457	HAEpiC	amniotic membrane:	n/a
3	chr5:37839407-37839457	Hela-S3	cervix:	n/a
4	chr5:37839407-37839457	SAEC	small airway:	n/a
5	chr5:37839407-37839457	CMK	blood:	n/a
6	chr5:37839407-37839457	Jurkat	blood:	n/a
7	chr5:37839407-37839457	BJ	skin:	n/a
8	chr5:37839407-37839457	HRCEpiC	kidney:	n/a
9	chr5:37839407-37839457	RPTEC	kidney:	n/a
10	chr5:37839407-37839457	SK-N-SH	brain:	n/a
11	chr5:37839407-37839457	GM19239	blood:	n/a
12	chr5:37839407-37839457	GM12891	blood:	n/a
13	chr5:37839407-37839457	MCF10A-Er-Src	breast:	n/a
14	chr5:37839407-37839457	GM12878	blood:	n/a
15	chr5:37839407-37839457	AG10803	skin:	n/a
16	chr5:37839407-37839457	AoSMC	blood vessel:	n/a
17	chr5:37839407-37839457	HMEC	breast:	n/a
18	chr5:37839407-37839457	SK-N-SH_RA	brain:	n/a
19	chr5:37839407-37839457	HUVEC	blood vessel:	n/a
20	chr5:37839407-37839457	NT2-D1	testis:	n/a
21	chr5:37839407-37839457	H1-hESC	embryonic stem cell:	embryo
22	chr5:37839407-37839457	ECC-1	luminal epithelium:	n/a
23	chr5:37839407-37839457	AG09319	gingival:	n/a
24	chr5:37839407-37839457	GM06990	blood:	n/a
25	chr5:37839407-37839457	NHBE	bronchial:	n/a
26	chr5:37839407-37839457	BE2_C	brain:	n/a
27	chr5:37839407-37839457	LNCaP	prostate:	n/a
28	chr5:37839407-37839457	NB4	blood:	n/a
29	chr5:37839407-37839457	PANC-1	pancreas:	n/a
30	chr5:37839407-37839457	A549	lung:	n/a
31	chr5:37839407-37839457	Caco-2	colon:	n/a
32	chr5:37839407-37839457	U87	brain:	n/a
33	chr5:37839407-37839457	HNPCEpiC	eye:	n/a
34	chr5:37839407-37839457	IMR90	lung:	fetal
35	chr5:37839407-37839457	NHDF-neo	bronchial:	n/a
36	chr5:37839407-37839457	PrEC	prostate:	n/a
37	chr5:37839407-37839457	AG09309	skin:	n/a
38	chr5:37839407-37839457	HL-60	blood:	n/a
39	chr5:37839407-37839457	HepG2	liver:	n/a
40	chr5:37839407-37839457	HEEpiC	esophagus:	n/a
41	chr5:37839407-37839457	ovcar-3	ovarian:	n/a
42	chr5:37839407-37839457	Hepatocyte	liver:	n/a
43	chr5:37839407-37839457	ProgFib	skin:	n/a
44	chr5:37839407-37839457	HRE	kidney:	n/a
45	chr5:37839407-37839457	K562	blood:	n/a
46	chr5:37839407-37839457	AG04450	lung:	fetal
47	chr5:37839407-37839457	SK-N-MC	brain:	n/a
48	chr5:37839407-37839457	AG04449	skin:	fetal
49	chr5:37839407-37839457	SKMC	muscle:	n/a
50	chr5:37839407-37839457	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37837605..37839454-chr5:37840945..37842875,2	K562	blood:

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

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3406944	chr5:37838720-37841568	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37834200-37841000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:37834400-37840600	Bivalent Enhancer	Fetal Brain Male	brain
3	chr5:37834400-37841400	Bivalent/Poised TSS	Colonic Mucosa	Colon
4	chr5:37835000-37839800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
5	chr5:37835800-37840000	Bivalent Enhancer	Spleen	Spleen
6	chr5:37836200-37840200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:37836200-37840600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
8	chr5:37836200-37840800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr5:37836200-37840800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr5:37836200-37840800	Active TSS	NHDF-Ad	bronchial
11	chr5:37836200-37841000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr5:37836200-37841000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:37836400-37839600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
14	chr5:37836400-37839600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
15	chr5:37836400-37839800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr5:37836400-37839800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
17	chr5:37836400-37840600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:37836400-37840600	Active TSS	HSMM	muscle
19	chr5:37836400-37840800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr5:37836400-37841200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr5:37836400-37841600	Active TSS	HSMMtube	muscle
22	chr5:37836600-37839800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr5:37836600-37839800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
24	chr5:37836600-37840000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr5:37836600-37840000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
26	chr5:37836600-37840200	Enhancers	Lung	lung
27	chr5:37836600-37841000	Flanking Active TSS	HMEC	breast
28	chr5:37837000-37840600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr5:37837000-37840800	Active TSS	Osteobl	bone
30	chr5:37837400-37839600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
31	chr5:37837800-37839600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
32	chr5:37837800-37839600	Flanking Active TSS	NHEK	skin
33	chr5:37837800-37839800	Bivalent/Poised TSS	NHLF	lung
34	chr5:37838000-37839600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
35	chr5:37838000-37841200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr5:37838200-37840000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
37	chr5:37838200-37841400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
38	chr5:37838400-37839600	Bivalent Enhancer	Left Ventricle	heart
39	chr5:37838400-37839800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
40	chr5:37838400-37840800	Active TSS	Rectal Smooth Muscle	rectum
41	chr5:37838400-37841000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr5:37838600-37839600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
43	chr5:37838600-37839800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
44	chr5:37838600-37840200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:37838600-37841000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:37838600-37841000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
47	chr5:37838800-37839600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
48	chr5:37838800-37839600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr5:37838800-37839600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
50	chr5:37839000-37839600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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