Variant report

Variant	rs537246814
Chromosome Location	chr5:94619746-94619747
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	RAD21	chr5:94619614-94620008	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr5:94619720-94619870	HFF-Myc	foreskin:	n/a	n/a
3	CTCF	chr5:94619740-94619890	K562	blood:	n/a	n/a
4	CHD2	chr5:94619666-94619789	Hela-S3	cervix:	n/a	n/a
5	TCF12	chr5:94619579-94620050	A549	lung:	n/a	n/a
6	CTCF	chr5:94619658-94620135	GM19238	blood:	n/a	n/a
7	CTCF	chr5:94619655-94619986	HepG2	liver:	n/a	n/a
8	ZBTB7A	chr5:94619741-94619966	K562	blood:	n/a	n/a
9	CTCF	chr5:94619720-94619870	AG04449	skin:	n/a	n/a
10	CTCF	chr5:94619658-94620211	MCF-7	breast:	n/a	n/a
11	POLR2A	chr5:94619356-94620558	MCF-7	breast:	n/a	n/a
12	MYC	chr5:94619728-94620195	NB4	blood:	n/a	n/a
13	MYC	chr5:94619488-94620225	MCF-7	breast:	n/a	n/a
14	ZNF143	chr5:94619658-94619989	GM12878	blood:	n/a	n/a
15	CTCF	chr5:94619727-94620134	K562	blood:	n/a	n/a
16	CTCF	chr5:94619680-94619830	WI-38	lung:	n/a	n/a
17	SIN3AK20	chr5:94619471-94619895	PANC-1	pancreas:	n/a	n/a
18	CTCF	chr5:94619706-94619931	SK-N-SH_RA	brain:	n/a	n/a
19	CHD2	chr5:94619743-94620012	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCFL	chr5:94619711-94619917	K562	blood:	n/a	n/a
21	POLR2A	chr5:94619423-94620561	MCF-7	breast:	n/a	n/a
22	CTCF	chr5:94619681-94619959	GM12878	blood:	n/a	n/a
23	ZNF143	chr5:94619690-94619989	K562	blood:	n/a	n/a
24	CTCF	chr5:94619682-94619963	GM19240	blood:	n/a	n/a
25	CTCF	chr5:94619585-94620136	MCF-7	breast:	n/a	n/a
26	CTCF	chr5:94619600-94619750	BE2_C	brain:	n/a	n/a
27	MAZ	chr5:94619657-94620023	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr5:94619656-94619955	GM10266	blood:	n/a	n/a
29	CTCF	chr5:94619740-94619890	AG09309	skin:	n/a	n/a
30	MAX	chr5:94619665-94620112	A549	lung:	n/a	n/a
31	ZEB1	chr5:94619455-94620143	GM12878	blood:	n/a	chr5:94619697-94619709
32	RAD21	chr5:94619633-94619986	HepG2	liver:	n/a	n/a
33	CTCF	chr5:94619680-94619830	Caco-2	colon:	n/a	n/a
34	GABPA	chr5:94619571-94620042	MCF-7	breast:	n/a	n/a
35	CTCF	chr5:94619676-94619997	GM12892	blood:	n/a	n/a
36	CTCF	chr5:94619720-94619870	AoAF	blood vessel:	n/a	n/a
37	ZNF143	chr5:94619575-94620043	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr5:94619672-94619948	GM10248	blood:	n/a	n/a
39	RAD21	chr5:94619509-94620062	ECC-1	luminal epithelium:	n/a	n/a
40	CTCF	chr5:94619740-94619890	GM12873	blood:	n/a	n/a
41	CTCF	chr5:94619740-94619890	HFF	foreskin:	n/a	n/a
42	CTCF	chr5:94619740-94619890	NHDF-neo	bronchial:	n/a	n/a
43	MAZ	chr5:94619670-94620001	K562	blood:	n/a	n/a
44	CTCF	chr5:94619710-94619910	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr5:94619740-94619890	HBMEC	blood vessel:	n/a	n/a
46	POLR2A	chr5:94619458-94620112	H1-neurons	neurons:	n/a	n/a
47	RAD21	chr5:94619581-94620123	HCT-116	colon:	n/a	n/a
48	CTCF	chr5:94619486-94620243	A549	lung:	n/a	n/a
49	REST	chr5:94619604-94621290	H1-neurons	neurons:	n/a	chr5:94620698-94620711 chr5:94620705-94620715 chr5:94620695-94620708 chr5:94620946-94620959 chr5:94620695-94620708
50	CTCF	chr5:94619704-94619885	GM20000	blood:	n/a	n/a

Variant related genes	Relation type
MCTP1	TF binding region

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	nsv432752	chr5:94524244-94691044	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv3341897	chr5:94618421-94620969	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
3	esv3408932	chr5:94619021-94621569	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94618400-94620000	Enhancers	Fetal Brain Male	brain
2	chr5:94618400-94621200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr5:94618600-94621600	Active TSS	Brain Angular Gyrus	brain
4	chr5:94618800-94620600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
5	chr5:94618800-94620600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:94618800-94620800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr5:94618800-94620800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:94618800-94620800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
9	chr5:94619000-94620600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:94619000-94620800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:94619000-94620800	Bivalent/Poised TSS	NHDF-Ad	bronchial
12	chr5:94619000-94621200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr5:94619000-94621400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
14	chr5:94619000-94621400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr5:94619200-94620400	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:94619200-94620400	Bivalent/Poised TSS	NHEK	skin
17	chr5:94619200-94620600	Active TSS	H1 Cell Line	embryonic stem cell
18	chr5:94619200-94620600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
19	chr5:94619200-94620600	Active TSS	Duodenum Mucosa	Duodenum
20	chr5:94619200-94620600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
21	chr5:94619200-94620600	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr5:94619200-94620600	Bivalent/Poised TSS	Thymus	Thymus
23	chr5:94619200-94620800	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr5:94619200-94620800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:94619200-94620800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
26	chr5:94619200-94620800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
27	chr5:94619200-94621000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr5:94619200-94621200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:94619200-94621200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:94619200-94621200	Active TSS	Brain Substantia Nigra	brain
31	chr5:94619200-94621400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr5:94619200-94621400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr5:94619200-94621800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr5:94619400-94620000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:94619400-94620000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:94619400-94620000	Active TSS	Fetal Kidney	kidney
37	chr5:94619400-94620200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
38	chr5:94619400-94620200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:94619400-94620400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:94619400-94620400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:94619400-94620400	Active TSS	Adipose Nuclei	Adipose
42	chr5:94619400-94620400	Bivalent/Poised TSS	Osteobl	bone
43	chr5:94619400-94620600	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr5:94619400-94620600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr5:94619400-94620600	Active TSS	Pancreas	Pancrea
46	chr5:94619400-94620600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
47	chr5:94619400-94620600	Active TSS	HUVEC	blood vessel
48	chr5:94619400-94620800	Active TSS	Primary T cells from cord blood	blood
49	chr5:94619400-94620800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
50	chr5:94619400-94620800	Bivalent/Poised TSS	Fetal Intestine Large	intestine

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