Variant report

Variant	rs376844222
Chromosome Location	chr5:37840627-37840628
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	CTCF	chr5:37840389-37840629	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr5:37840500-37840650	HMF	breast:	n/a	n/a
11	TAF1	chr5:37840444-37840895	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr5:37840540-37840690	HFF-Myc	foreskin:	n/a	n/a
13	RAD21	chr5:37840346-37840779	H1-hESC	embryonic stem cell:	n/a	chr5:37840712-37840722 chr5:37840433-37840446
14	MAX	chr5:37839743-37840858	A549	lung:	n/a	chr5:37840289-37840299
15	SIN3AK20	chr5:37840279-37840882	SK-N-SH	brain:	n/a	n/a
16	RAD21	chr5:37840401-37840642	HepG2	liver:	n/a	chr5:37840433-37840446
17	CTCF	chr5:37840330-37840854	IMR90	lung:	n/a	n/a
18	RAD21	chr5:37840263-37840796	H1-hESC	embryonic stem cell:	n/a	chr5:37840712-37840722 chr5:37840433-37840446
19	CTCF	chr5:37840540-37840690	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr5:37840520-37840670	AG09319	gingival:	n/a	n/a
21	CTCF	chr5:37840491-37840724	GM12878	blood:	n/a	n/a
22	CTCF	chr5:37840520-37840670	HRE	kidney:	n/a	n/a
23	MAX	chr5:37840302-37840870	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZNF263	chr5:37839746-37841001	HEK293-T-REx	kidney:	n/a	chr5:37840249-37840258
25	CTCF	chr5:37840540-37840690	HPF	lung:	n/a	n/a
26	BHLHE40	chr5:37839864-37840661	HepG2	liver:	n/a	chr5:37839968-37839984 chr5:37839973-37839989 chr5:37839947-37839963
27	MAX	chr5:37840429-37840652	A549	lung:	n/a	n/a
28	RAD21	chr5:37840346-37840718	HepG2	liver:	n/a	chr5:37840433-37840446
29	REST	chr5:37840460-37840770	SK-N-SH	brain:	n/a	n/a
30	MAX	chr5:37839740-37840787	HepG2	liver:	n/a	chr5:37840289-37840299
31	CTCF	chr5:37840500-37840650	HA-sp	spinal cord:	n/a	n/a
32	CTCF	chr5:37840398-37840646	MCF-7	breast:	n/a	n/a
33	CTCF	chr5:37840480-37840630	AG04449	skin:	n/a	n/a
34	POLR2A	chr5:37840483-37840655	Gliobla	brain:	n/a	n/a
35	CTCF	chr5:37840560-37840710	BJ	skin:	n/a	n/a
36	CTCF	chr5:37840407-37840662	MCF-7	breast:	n/a	n/a
37	CTCF	chr5:37840500-37840650	AG04450	lung:	n/a	n/a
38	MAZ	chr5:37838894-37841199	IMR90	lung:	n/a	chr5:37839592-37839602 chr5:37840289-37840299 chr5:37839378-37839388 chr5:37839135-37839145
39	EP300	chr5:37840490-37840671	HepG2	liver:	n/a	n/a
40	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
41	CTCF	chr5:37840500-37840650	Caco-2	colon:	n/a	n/a
42	E2F6	chr5:37840340-37840824	A549	lung:	n/a	chr5:37840472-37840482
43	CHD2	chr5:37840379-37840789	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr5:37840371-37840759	NHEK	skin:	n/a	n/a
45	POLR2A	chr5:37839876-37841002	ProgFib	skin:	n/a	n/a
46	MAX	chr5:37840342-37841071	SK-N-SH	brain:	n/a	n/a
47	MAX	chr5:37839552-37840816	H1-hESC	embryonic stem cell:	n/a	chr5:37839592-37839602 chr5:37840289-37840299
48	TBP	chr5:37840384-37840661	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr5:37840600-37840750	AG04450	lung:	n/a	n/a
50	CTCF	chr5:37840400-37840749	ProgFib	skin:	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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR70-1	chr5:37840540-37840675	ENSG00000248587.2
2	lnc-WDR70-1	chr5:37839970-37840675	NONHSAT101070
3	lnc-WDR70-1	chr5:37840540-37840675	NR_103441

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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
5	nsv597849	chr5:37839618-37840642	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	nsv597854	chr5:37840054-37840642	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers 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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