Variant report

Variant	rs550585278
Chromosome Location	chr5:68390019-68390020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:388)
CpG islands
(count:61)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr5:68389470-68390642	Hela-S3	cervix:	n/a	chr5:68389810-68389819 chr5:68389826-68389842 chr5:68389827-68389841
2	MAX	chr5:68389441-68390249	ECC-1	luminal epithelium:	n/a	chr5:68389826-68389834
3	YY1	chr5:68389483-68390176	ECC-1	luminal epithelium:	n/a	chr5:68390052-68390063 chr5:68389946-68389960 chr5:68390017-68390028 chr5:68390054-68390068
4	ZMIZ1	chr5:68389518-68390185	K562	blood:	n/a	n/a
5	POLR2A	chr5:68389551-68390200	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:68389487-68390283	U87	brain:	n/a	n/a
7	POLR2A	chr5:68389555-68390444	GM12878	blood:	n/a	n/a
8	GABPA	chr5:68389511-68390376	K562	blood:	n/a	n/a
9	EP300	chr5:68389511-68390736	GM12878	blood:	n/a	chr5:68390659-68390673 chr5:68389871-68389880 chr5:68390059-68390068
10	POLR2A	chr5:68389514-68390177	HUVEC	blood vessel:	n/a	n/a
11	MAX	chr5:68389518-68390079	A549	lung:	n/a	chr5:68389826-68389834
12	POLR2A	chr5:68389500-68390627	MCF-7	breast:	n/a	n/a
13	POLR2A	chr5:68389568-68390612	K562	blood:	n/a	n/a
14	HCFC1	chr5:68389419-68390665	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr5:68389458-68390050	HepG2	liver:	n/a	n/a
16	TCF12	chr5:68389523-68390309	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr5:68389389-68390107	PANC-1	pancreas:	n/a	n/a
18	MYBL2	chr5:68389430-68390126	HepG2	liver:	n/a	n/a
19	MAZ	chr5:68389366-68390658	IMR90	lung:	n/a	chr5:68390281-68390291 chr5:68389826-68389834
20	EP300	chr5:68389444-68390087	H1-hESC	embryonic stem cell:	n/a	chr5:68389871-68389880 chr5:68390059-68390068
21	POU2F2	chr5:68389388-68390138	GM12878	blood:	n/a	chr5:68390055-68390067
22	JUND	chr5:68389455-68390091	K562	blood:	n/a	n/a
23	RAD21	chr5:68389469-68390060	ECC-1	luminal epithelium:	n/a	n/a
24	YY1	chr5:68389509-68390087	A549	lung:	n/a	chr5:68390052-68390063 chr5:68389946-68389960 chr5:68390017-68390028 chr5:68390054-68390068
25	YY1	chr5:68389673-68390212	ECC-1	luminal epithelium:	n/a	chr5:68390052-68390063 chr5:68389946-68389960 chr5:68390017-68390028 chr5:68390054-68390068
26	EP300	chr5:68389470-68390317	ECC-1	luminal epithelium:	n/a	chr5:68389871-68389880 chr5:68390059-68390068
27	ELF1	chr5:68389432-68390154	MCF-7	breast:	n/a	chr5:68390055-68390067 chr5:68390016-68390025
28	MAX	chr5:68389430-68390301	MCF-7	breast:	n/a	chr5:68390281-68390291 chr5:68389826-68389834
29	KAP1	chr5:68389540-68390616	HEK293	kidney:	n/a	n/a
30	MAX	chr5:68389470-68390289	ECC-1	luminal epithelium:	n/a	chr5:68389826-68389834
31	MAZ	chr5:68389477-68390515	K562	blood:	n/a	chr5:68390281-68390291 chr5:68389826-68389834
32	POLR2A	chr5:68389292-68390933	SK-N-MC	brain:	n/a	n/a
33	MYBL2	chr5:68389389-68390166	HepG2	liver:	n/a	n/a
34	CREB1	chr5:68389457-68390762	GM12878	blood:	n/a	chr5:68389821-68389834
35	REST	chr5:68389395-68390730	H1-neurons	neurons:	n/a	n/a
36	MTA3	chr5:68389491-68390151	GM12878	blood:	n/a	n/a
37	RAD21	chr5:68389464-68390038	H1-hESC	embryonic stem cell:	n/a	n/a
38	SMC3	chr5:68389451-68390578	Hela-S3	cervix:	n/a	n/a
39	NFIC	chr5:68389449-68390194	ECC-1	luminal epithelium:	n/a	chr5:68389831-68389847
40	RAD21	chr5:68389419-68390329	SK-N-SH	brain:	n/a	n/a
41	YY1	chr5:68389527-68390045	HCT-116	colon:	n/a	chr5:68389946-68389960 chr5:68390017-68390028
42	ZNF384	chr5:68389492-68390057	K562	blood:	n/a	n/a
43	ATF3	chr5:68389474-68390112	A549	lung:	n/a	n/a
44	FOXA2	chr5:68389445-68390030	A549	lung:	n/a	n/a
45	TBL1XR1	chr5:68389462-68390126	GM12878	blood:	n/a	n/a
46	ELK1	chr5:68389546-68390282	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr5:68389433-68390258	A549	lung:	n/a	chr5:68389634-68389652
48	GABPA	chr5:68389518-68390335	SK-N-SH	brain:	n/a	n/a
49	GTF2F1	chr5:68389488-68390036	Hela-S3	cervix:	n/a	n/a
50	CCNT2	chr5:68389560-68390446	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:68389996-68390046	HL-60	blood:	n/a
2	chr5:68389996-68390046	HRE	kidney:	n/a
3	chr5:68389996-68390046	AoSMC	blood vessel:	n/a
4	chr5:68389996-68390046	HNPCEpiC	eye:	n/a
5	chr5:68389996-68390046	T-47D	breast:	n/a
6	chr5:68389996-68390046	GM12878	blood:	n/a
7	chr5:68389996-68390046	NB4	blood:	n/a
8	chr5:68389996-68390046	ProgFib	skin:	n/a
9	chr5:68389996-68390046	HMEC	breast:	n/a
10	chr5:68389996-68390046	AG09319	gingival:	n/a
11	chr5:68389996-68390046	HAEpiC	amniotic membrane:	n/a
12	chr5:68389996-68390046	U87	brain:	n/a
13	chr5:68389996-68390046	GM19239	blood:	n/a
14	chr5:68389996-68390046	Hela-S3	cervix:	n/a
15	chr5:68389996-68390046	MCF10A-Er-Src	breast:	n/a
16	chr5:68389996-68390046	RPTEC	kidney:	n/a
17	chr5:68389996-68390046	NH-A	brain:	n/a
18	chr5:68389996-68390046	PFSK-1	brain:	n/a
19	chr5:68389996-68390046	A549	lung:	n/a
20	chr5:68389996-68390046	CMK	blood:	n/a
21	chr5:68389996-68390046	SAEC	small airway:	n/a
22	chr5:68389996-68390046	SK-N-MC	brain:	n/a
23	chr5:68389996-68390046	HCPEpiC	choroid plexus:	n/a
24	chr5:68389996-68390046	GM06990	blood:	n/a
25	chr5:68389996-68390046	Jurkat	blood:	n/a
26	chr5:68389996-68390046	HIPEpiC	eye:	n/a
27	chr5:68389996-68390046	SK-N-SH	brain:	n/a
28	chr5:68389996-68390046	NHBE	bronchial:	n/a
29	chr5:68389996-68390046	HCF	heart:	n/a
30	chr5:68389996-68390046	AG09309	skin:	n/a
31	chr5:68389996-68390046	HepG2	liver:	n/a
32	chr5:68389996-68390046	PANC-1	pancreas:	n/a
33	chr5:68389996-68390046	MCF-7	breast:	n/a
34	chr5:68389996-68390046	HRCEpiC	kidney:	n/a
35	chr5:68389996-68390046	HEK293	kidney:	embryo
36	chr5:68389996-68390046	AG04450	lung:	fetal
37	chr5:68389996-68390046	BE2_C	brain:	n/a
38	chr5:68389996-68390046	GM12892	blood:	n/a
39	chr5:68389996-68390046	IMR90	lung:	fetal
40	chr5:68389996-68390046	AG04449	skin:	fetal
41	chr5:68389996-68390046	ovcar-3	ovarian:	n/a
42	chr5:68389996-68390046	SKMC	muscle:	n/a
43	chr5:68389996-68390046	AG10803	skin:	n/a
44	chr5:68389996-68390046	HEEpiC	esophagus:	n/a
45	chr5:68389996-68390046	NT2-D1	testis:	n/a
46	chr5:68389996-68390046	K562	blood:	n/a
47	chr5:68389996-68390046	GM12891	blood:	n/a
48	chr5:68389996-68390046	NHDF-neo	bronchial:	n/a
49	chr5:68389996-68390046	LNCaP	prostate:	n/a
50	chr5:68389996-68390046	HCT-116	colon:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:52344412..52344919-chr5:68389599..68390184,2	NB4	blood:
2	chr5:68388349..68391314-chr5:68786934..68789626,2	MCF-7	breast:
3	chr5:68389643..68390291-chr7:45025687..45026218,2	NB4	blood:
4	chr5:68388171..68390847-chr5:68662913..68666552,4	K562	blood:
5	chr5:68388706..68391393-chr5:68627238..68631529,6	MCF-7	breast:
6	chr5:68387785..68391337-chr5:68461261..68464730,5	K562	blood:
7	chr5:68388226..68392530-chr5:68662317..68667070,8	K562	blood:
8	chr5:68388860..68391967-chr5:68513712..68515652,4	K562	blood:
9	chr5:68387450..68391238-chr5:68664593..68668133,5	MCF-7	breast:
10	chr5:68388388..68391466-chr5:68512032..68515267,4	MCF-7	breast:
11	chr5:68337727..68340697-chr5:68388577..68391488,3	MCF-7	breast:
12	chr5:68389720..68391335-chr5:68512201..68513725,2	MCF-7	breast:
13	chr5:68388464..68391397-chr5:68483791..68487195,4	K562	blood:
14	chr5:68389331..68393521-chr5:68397846..68403936,9	K562	blood:
15	chr14:96968195..96968730-chr5:68389846..68390449,2	Hela-S3	cervix:
16	chr5:68388570..68392149-chr5:68396982..68399420,3	MCF-7	breast:
17	chr5:68388453..68391488-chr5:68483791..68487092,6	K562	blood:
18	chr5:68389777..68391751-chr5:68483907..68486743,2	MCF-7	breast:
19	chr15:75248787..75249569-chr5:68389697..68390264,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
SLC30A5	TF binding region
SLC30A5	CpG island
ENSG00000085231	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000232956	Chromatin interaction
ENSG00000178718	Chromatin interaction
ENSG00000215006	Chromatin interaction
ENSG00000078618	Chromatin interaction
ENSG00000134057	Chromatin interaction
ENSG00000183323	Chromatin interaction
ENSG00000260806	Chromatin interaction
ENSG00000153044	Chromatin interaction
ENSG00000145740	Chromatin interaction
ENSG00000134056	Chromatin interaction
ENSG00000250237	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000090060	Chromatin interaction
ENSG00000197822	Chromatin interaction

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	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3391099	chr5:68377245-68400350	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv3413325	chr5:68389021-68391569	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68389200-68390200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:68389200-68390400	Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr5:68389200-68390600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:68389200-68390800	Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr5:68389400-68390200	Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr5:68389400-68390200	Active TSS	Monocytes-CD14+_RO01746	blood
7	chr5:68389400-68390400	Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr5:68389400-68390400	Active TSS	Adipose Nuclei	Adipose
9	chr5:68389400-68390400	Active TSS	Brain Angular Gyrus	brain
10	chr5:68389400-68390400	Active TSS	Brain Anterior Caudate	brain
11	chr5:68389400-68390600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:68389400-68390600	Active TSS	Brain Cingulate Gyrus	brain
13	chr5:68389400-68390600	Active TSS	Brain Germinal Matrix	brain
14	chr5:68389400-68390600	Active TSS	Brain Hippocampus Middle	brain
15	chr5:68389400-68390600	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr5:68389400-68390600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:68389400-68390600	Active TSS	Brain Substantia Nigra	brain
18	chr5:68389400-68390600	Active TSS	Colon Smooth Muscle	Colon
19	chr5:68389400-68390600	Active TSS	Duodenum Mucosa	Duodenum
20	chr5:68389400-68390600	Active TSS	Fetal Lung	lung
21	chr5:68389400-68390600	Active TSS	Fetal Muscle Leg	muscle
22	chr5:68389400-68390600	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr5:68389400-68390600	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr5:68389400-68390600	Active TSS	Rectal Smooth Muscle	rectum
25	chr5:68389400-68390600	Active TSS	Osteobl	bone
26	chr5:68389400-68390800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:68389400-68390800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr5:68389400-68390800	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr5:68389400-68390800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:68389400-68390800	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr5:68389400-68390800	Active TSS	Fetal Brain Female	brain
32	chr5:68389400-68390800	Active TSS	Fetal Intestine Small	intestine
33	chr5:68389400-68390800	Active TSS	Fetal Kidney	kidney
34	chr5:68389400-68390800	Active TSS	Placenta	Placenta
35	chr5:68389400-68390800	Active TSS	Fetal Stomach	stomach
36	chr5:68389400-68390800	Active TSS	HSMMtube	muscle
37	chr5:68389400-68391000	Active TSS	H1 Cell Line	embryonic stem cell
38	chr5:68389400-68391000	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr5:68389400-68391000	Active TSS	Muscle Satellite Cultured Cells	--
40	chr5:68389400-68391000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:68389400-68391000	Active TSS	Fetal Muscle Trunk	muscle
42	chr5:68389400-68391000	Active TSS	Ovary	ovary
43	chr5:68389400-68391000	Active TSS	Psoas Muscle	Psoas
44	chr5:68389400-68391000	Active TSS	Stomach Smooth Muscle	stomach
45	chr5:68389400-68391000	Active TSS	NHDF-Ad	bronchial
46	chr5:68389400-68391200	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr5:68389400-68391200	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr5:68389400-68391200	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr5:68389400-68391200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:68389400-68391200	Active TSS	Breast Myoepithelial Primary Cells	Breast

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