Variant report

Variant	rs530866442
Chromosome Location	chr5:68389799-68389800
allele	C/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	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	RAD21	chr5:68389425-68389950	HepG2	liver:	n/a	n/a
7	POLR2A	chr5:68389487-68390283	U87	brain:	n/a	n/a
8	JUND	chr5:68389503-68389939	A549	lung:	n/a	n/a
9	POLR2A	chr5:68389555-68390444	GM12878	blood:	n/a	n/a
10	GABPA	chr5:68389511-68390376	K562	blood:	n/a	n/a
11	EP300	chr5:68389511-68390736	GM12878	blood:	n/a	chr5:68390659-68390673 chr5:68389871-68389880 chr5:68390059-68390068
12	POLR2A	chr5:68389514-68390177	HUVEC	blood vessel:	n/a	n/a
13	STAT3	chr5:68389568-68389843	MCF10A-Er-Src	breast:	n/a	n/a
14	MAX	chr5:68389518-68390079	A549	lung:	n/a	chr5:68389826-68389834
15	POLR2A	chr5:68389500-68390627	MCF-7	breast:	n/a	n/a
16	POLR2A	chr5:68389568-68390612	K562	blood:	n/a	n/a
17	YY1	chr5:68389746-68389873	K562	blood:	n/a	n/a
18	HCFC1	chr5:68389419-68390665	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr5:68389458-68390050	HepG2	liver:	n/a	n/a
20	TCF12	chr5:68389523-68390309	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr5:68389389-68390107	PANC-1	pancreas:	n/a	n/a
22	MYBL2	chr5:68389430-68390126	HepG2	liver:	n/a	n/a
23	MAZ	chr5:68389366-68390658	IMR90	lung:	n/a	chr5:68390281-68390291 chr5:68389826-68389834
24	EP300	chr5:68389444-68390087	H1-hESC	embryonic stem cell:	n/a	chr5:68389871-68389880 chr5:68390059-68390068
25	POU2F2	chr5:68389388-68390138	GM12878	blood:	n/a	chr5:68390055-68390067
26	JUND	chr5:68389455-68390091	K562	blood:	n/a	n/a
27	RAD21	chr5:68389469-68390060	ECC-1	luminal epithelium:	n/a	n/a
28	RAD21	chr5:68389430-68389935	SK-N-SH_RA	brain:	n/a	n/a
29	YY1	chr5:68389509-68390087	A549	lung:	n/a	chr5:68390052-68390063 chr5:68389946-68389960 chr5:68390017-68390028 chr5:68390054-68390068
30	YY1	chr5:68389673-68390212	ECC-1	luminal epithelium:	n/a	chr5:68390052-68390063 chr5:68389946-68389960 chr5:68390017-68390028 chr5:68390054-68390068
31	SRF	chr5:68389515-68389836	K562	blood:	n/a	n/a
32	EP300	chr5:68389470-68390317	ECC-1	luminal epithelium:	n/a	chr5:68389871-68389880 chr5:68390059-68390068
33	ELF1	chr5:68389432-68390154	MCF-7	breast:	n/a	chr5:68390055-68390067 chr5:68390016-68390025
34	CBX3	chr5:68389451-68390006	K562	blood:	n/a	n/a
35	MAX	chr5:68389430-68390301	MCF-7	breast:	n/a	chr5:68390281-68390291 chr5:68389826-68389834
36	KAP1	chr5:68389540-68390616	HEK293	kidney:	n/a	n/a
37	CTCF	chr5:68389496-68389834	GM19240	blood:	n/a	chr5:68389634-68389652
38	EP300	chr5:68389640-68389914	K562	blood:	n/a	chr5:68389871-68389880
39	MAX	chr5:68389470-68390289	ECC-1	luminal epithelium:	n/a	chr5:68389826-68389834
40	MAZ	chr5:68389477-68390515	K562	blood:	n/a	chr5:68390281-68390291 chr5:68389826-68389834
41	POLR2A	chr5:68389292-68390933	SK-N-MC	brain:	n/a	n/a
42	CTCF	chr5:68389488-68389873	GM12892	blood:	n/a	chr5:68389634-68389652
43	MYBL2	chr5:68389389-68390166	HepG2	liver:	n/a	n/a
44	CREB1	chr5:68389457-68390762	GM12878	blood:	n/a	chr5:68389821-68389834
45	REST	chr5:68389395-68390730	H1-neurons	neurons:	n/a	n/a
46	MAFK	chr5:68389526-68389933	IMR90	lung:	n/a	n/a
47	MTA3	chr5:68389491-68390151	GM12878	blood:	n/a	n/a
48	RAD21	chr5:68389464-68390038	H1-hESC	embryonic stem cell:	n/a	n/a
49	SMC3	chr5:68389451-68390578	Hela-S3	cervix:	n/a	n/a
50	NFIC	chr5:68389449-68390194	ECC-1	luminal epithelium:	n/a	chr5:68389831-68389847

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	chr5:68388570..68392149-chr5:68396982..68399420,3	MCF-7	breast:
16	chr5:68388453..68391488-chr5:68483791..68487092,6	K562	blood:
17	chr5:68389777..68391751-chr5:68483907..68486743,2	MCF-7	breast:
18	chr15:75248787..75249569-chr5:68389697..68390264,2	Hela-S3	cervix:

Variant related genes	Relation type
SLC30A5	TF binding region
ENSG00000198794	Chromatin interaction
ENSG00000250237	Chromatin interaction
ENSG00000134057	Chromatin interaction
ENSG00000178718	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000153044	Chromatin interaction
ENSG00000232956	Chromatin interaction
ENSG00000145740	Chromatin interaction
ENSG00000197822	Chromatin interaction
ENSG00000078618	Chromatin interaction
ENSG00000134056	Chromatin interaction
ENSG00000183323	Chromatin interaction
ENSG00000215006	Chromatin interaction
ENSG00000085231	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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68382400-68389800	Weak transcription	Right Atrium	heart
2	chr5:68387400-68389800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:68387600-68389800	Weak transcription	Right Ventricle	heart
4	chr5:68388600-68389800	Enhancers	Fetal Heart	heart
5	chr5:68389000-68389800	Enhancers	GM12878-XiMat	blood
6	chr5:68389200-68390200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:68389200-68390400	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr5:68389200-68390600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:68389200-68390800	Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr5:68389400-68389800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:68389400-68389800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr5:68389400-68389800	Enhancers	Primary hematopoietic stem cells	blood
13	chr5:68389400-68389800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:68389400-68389800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr5:68389400-68389800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:68389400-68389800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr5:68389400-68389800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr5:68389400-68389800	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr5:68389400-68389800	Enhancers	HMEC	breast
20	chr5:68389400-68390000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:68389400-68390200	Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr5:68389400-68390200	Active TSS	Monocytes-CD14+_RO01746	blood
23	chr5:68389400-68390400	Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr5:68389400-68390400	Active TSS	Adipose Nuclei	Adipose
25	chr5:68389400-68390400	Active TSS	Brain Angular Gyrus	brain
26	chr5:68389400-68390400	Active TSS	Brain Anterior Caudate	brain
27	chr5:68389400-68390600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:68389400-68390600	Active TSS	Brain Cingulate Gyrus	brain
29	chr5:68389400-68390600	Active TSS	Brain Germinal Matrix	brain
30	chr5:68389400-68390600	Active TSS	Brain Hippocampus Middle	brain
31	chr5:68389400-68390600	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr5:68389400-68390600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:68389400-68390600	Active TSS	Brain Substantia Nigra	brain
34	chr5:68389400-68390600	Active TSS	Colon Smooth Muscle	Colon
35	chr5:68389400-68390600	Active TSS	Duodenum Mucosa	Duodenum
36	chr5:68389400-68390600	Active TSS	Fetal Lung	lung
37	chr5:68389400-68390600	Active TSS	Fetal Muscle Leg	muscle
38	chr5:68389400-68390600	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr5:68389400-68390600	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr5:68389400-68390600	Active TSS	Rectal Smooth Muscle	rectum
41	chr5:68389400-68390600	Active TSS	Osteobl	bone
42	chr5:68389400-68390800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:68389400-68390800	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr5:68389400-68390800	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr5:68389400-68390800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:68389400-68390800	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr5:68389400-68390800	Active TSS	Fetal Brain Female	brain
48	chr5:68389400-68390800	Active TSS	Fetal Intestine Small	intestine
49	chr5:68389400-68390800	Active TSS	Fetal Kidney	kidney
50	chr5:68389400-68390800	Active TSS	Placenta	Placenta

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