Variant report

Variant	rs74414345
Chromosome Location	chr5:37840688-37840689
allele	C/T
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	CTCF	chr5:37840620-37840770	AG09309	skin:	n/a	n/a
2	MAX	chr5:37840306-37840860	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:37840209-37841010	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr5:37839792-37840931	IMR90	lung:	n/a	n/a
5	E2F6	chr5:37840201-37840780	H1-hESC	embryonic stem cell:	n/a	chr5:37840472-37840482
6	CTBP2	chr5:37839040-37840731	H1-hESC	embryonic stem cell:	n/a	n/a
7	E2F6	chr5:37840250-37840872	H1-hESC	embryonic stem cell:	n/a	chr5:37840472-37840482
8	RAD21	chr5:37839833-37841082	IMR90	lung:	n/a	chr5:37840712-37840722 chr5:37840433-37840446
9	TAF1	chr5:37840444-37840895	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr5:37840540-37840690	HFF-Myc	foreskin:	n/a	n/a
11	RAD21	chr5:37840346-37840779	H1-hESC	embryonic stem cell:	n/a	chr5:37840712-37840722 chr5:37840433-37840446
12	MAX	chr5:37839743-37840858	A549	lung:	n/a	chr5:37840289-37840299
13	SIN3AK20	chr5:37840279-37840882	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr5:37840651-37840746	MCF-7	breast:	n/a	n/a
15	CTCF	chr5:37840330-37840854	IMR90	lung:	n/a	n/a
16	RAD21	chr5:37840263-37840796	H1-hESC	embryonic stem cell:	n/a	chr5:37840712-37840722 chr5:37840433-37840446
17	CTCF	chr5:37840540-37840690	AoAF	blood vessel:	n/a	n/a
18	CTCF	chr5:37840491-37840724	GM12878	blood:	n/a	n/a
19	MAX	chr5:37840302-37840870	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr5:37840640-37840790	HMEC	breast:	n/a	n/a
21	ZNF263	chr5:37839746-37841001	HEK293-T-REx	kidney:	n/a	chr5:37840249-37840258
22	CTCF	chr5:37840540-37840690	HPF	lung:	n/a	n/a
23	CTCF	chr5:37840660-37840810	WI-38	lung:	n/a	n/a
24	RAD21	chr5:37840346-37840718	HepG2	liver:	n/a	chr5:37840433-37840446
25	REST	chr5:37840460-37840770	SK-N-SH	brain:	n/a	n/a
26	MAX	chr5:37839740-37840787	HepG2	liver:	n/a	chr5:37840289-37840299
27	CTCF	chr5:37840560-37840710	BJ	skin:	n/a	n/a
28	MAZ	chr5:37838894-37841199	IMR90	lung:	n/a	chr5:37839592-37839602 chr5:37840289-37840299 chr5:37839378-37839388 chr5:37839135-37839145
29	HA-E2F1	chr5:37839600-37840974	MCF-7	breast:	n/a	chr5:37839794-37839804 chr5:37840192-37840201 chr5:37839800-37839810 chr5:37839797-37839807 chr5:37839877-37839887 chr5:37840472-37840482
30	E2F6	chr5:37840340-37840824	A549	lung:	n/a	chr5:37840472-37840482
31	CTCF	chr5:37840660-37840810	A549	lung:	n/a	n/a
32	CHD2	chr5:37840379-37840789	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr5:37840371-37840759	NHEK	skin:	n/a	n/a
34	POLR2A	chr5:37839876-37841002	ProgFib	skin:	n/a	n/a
35	MAX	chr5:37840342-37841071	SK-N-SH	brain:	n/a	n/a
36	CTCF	chr5:37840680-37840830	HCFaa	heart:	n/a	n/a
37	MAX	chr5:37839552-37840816	H1-hESC	embryonic stem cell:	n/a	chr5:37839592-37839602 chr5:37840289-37840299
38	CTCF	chr5:37840600-37840750	AG04450	lung:	n/a	n/a
39	CTCF	chr5:37840400-37840749	ProgFib	skin:	n/a	n/a
40	REST	chr5:37840496-37840810	SK-N-SH	brain:	n/a	n/a
41	TBP	chr5:37840507-37840903	HepG2	liver:	n/a	n/a
42	E2F6	chr5:37840166-37840885	A549	lung:	n/a	chr5:37840192-37840201 chr5:37840472-37840482
43	POLR2A	chr5:37840456-37840781	H1-neurons	neurons:	n/a	n/a
44	POLR2A	chr5:37839943-37841081	U87	brain:	n/a	n/a
45	MAX	chr5:37840396-37840793	HepG2	liver:	n/a	n/a
46	SIN3A	chr5:37840317-37840743	H1-hESC	embryonic stem cell:	n/a	chr5:37840427-37840440 chr5:37840520-37840531
47	POLR2A	chr5:37840277-37841019	SK-N-SH	brain:	n/a	n/a
48	MAX	chr5:37840297-37840797	MCF-7	breast:	n/a	n/a
49	MAX	chr5:37840296-37840733	ECC-1	luminal epithelium:	n/a	n/a
50	CTCF	chr5:37840540-37840690	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37834038..37837439-chr5:37839505..37841588,3	MCF-7	breast:
2	chr5:37840566..37843558-chr5:37850227..37851845,2	K562	blood:

Variant related genes	Relation type
GDNF	TF binding region
ENSG00000168621	Chromatin interaction

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	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	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
3	esv1848849	chr5:37839618-37841045	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1850800	chr5:37839618-37841045	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv13245	chr5:37839636-37840756	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1821997	chr5:37839726-37841045	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37834200-37841000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:37834400-37841400	Bivalent/Poised TSS	Colonic Mucosa	Colon
3	chr5:37836200-37840800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr5:37836200-37840800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr5:37836200-37840800	Active TSS	NHDF-Ad	bronchial
6	chr5:37836200-37841000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr5:37836200-37841000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:37836400-37840800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr5:37836400-37841200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr5:37836400-37841600	Active TSS	HSMMtube	muscle
11	chr5:37836600-37841000	Flanking Active TSS	HMEC	breast
12	chr5:37837000-37840800	Active TSS	Osteobl	bone
13	chr5:37838000-37841200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr5:37838200-37841400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
15	chr5:37838400-37840800	Active TSS	Rectal Smooth Muscle	rectum
16	chr5:37838400-37841000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:37838600-37841000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:37838600-37841000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
19	chr5:37839200-37840800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr5:37839200-37840800	Active TSS	Colon Smooth Muscle	Colon
21	chr5:37839200-37841000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:37839400-37840800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:37839400-37841000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:37839600-37840800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:37839600-37840800	Active TSS	Brain Angular Gyrus	brain
26	chr5:37839600-37840800	Active TSS	Brain Substantia Nigra	brain
27	chr5:37839600-37840800	Bivalent/Poised TSS	Fetal Stomach	stomach
28	chr5:37839600-37840800	Bivalent/Poised TSS	A549	lung
29	chr5:37839800-37840800	Active TSS	Aorta	Aorta
30	chr5:37839800-37840800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr5:37839800-37840800	Active TSS	Left Ventricle	heart
32	chr5:37839800-37840800	Active TSS	Ovary	ovary
33	chr5:37839800-37840800	Active TSS	NH-A	brain
34	chr5:37839800-37841000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:37839800-37841000	Active TSS	Psoas Muscle	Psoas
36	chr5:37839800-37841000	Active TSS	Right Atrium	heart
37	chr5:37839800-37841000	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr5:37839800-37841200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:37839800-37841200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
40	chr5:37839800-37841400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
41	chr5:37840000-37840800	Enhancers	Spleen	Spleen
42	chr5:37840000-37841000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr5:37840000-37841200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:37840200-37840800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
45	chr5:37840200-37840800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
46	chr5:37840200-37840800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:37840200-37840800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
48	chr5:37840200-37840800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
49	chr5:37840200-37840800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr5:37840200-37840800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum

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