Variant report

Variant	rs377635648
Chromosome Location	chr5:68628958-68628959
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	FOXA2	chr5:68628445-68629119	A549	lung:	n/a	n/a
2	FOXA1	chr5:68628584-68628998	HepG2	liver:	n/a	n/a
3	USF1	chr5:68628239-68629064	SK-N-SH	brain:	n/a	chr5:68628650-68628661 chr5:68628621-68628637
4	E2F6	chr5:68628224-68629174	A549	lung:	n/a	chr5:68628615-68628624 chr5:68628626-68628636
5	USF1	chr5:68628373-68628979	K562	blood:	n/a	chr5:68628650-68628661 chr5:68628621-68628637
6	BCL3	chr5:68628522-68629005	A549	lung:	n/a	chr5:68628624-68628637
7	POLR2A	chr5:68628272-68629036	PANC-1	pancreas:	n/a	n/a
8	MAX	chr5:68628283-68629082	HepG2	liver:	n/a	chr5:68628650-68628661 chr5:68628659-68628666 chr5:68628651-68628660 chr5:68628661-68628670 chr5:68628651-68628660 chr5:68628649-68628662 chr5:68628651-68628660
9	POLR2A	chr5:68628244-68629322	MCF-7	breast:	n/a	n/a
10	MXI1	chr5:68628359-68628971	IMR90	lung:	n/a	chr5:68628652-68628661
11	MAX	chr5:68628209-68629066	HepG2	liver:	n/a	chr5:68628650-68628661 chr5:68628659-68628666 chr5:68628651-68628660 chr5:68628661-68628670 chr5:68628651-68628660 chr5:68628649-68628662 chr5:68628651-68628660
12	USF1	chr5:68628247-68629051	ECC-1	luminal epithelium:	n/a	chr5:68628650-68628661 chr5:68628621-68628637
13	ETS1	chr5:68628365-68628977	GM12878	blood:	n/a	chr5:68628461-68628470
14	POLR2A	chr5:68628270-68628973	ECC-1	luminal epithelium:	n/a	n/a
15	EGR1	chr5:68628206-68629134	HCT-116	colon:	n/a	chr5:68628661-68628671 chr5:68628659-68628673 chr5:68628610-68628619 chr5:68628615-68628624 chr5:68628659-68628672
16	TFAP2C	chr5:68628381-68629021	Hela-S3	cervix:	n/a	n/a
17	PML	chr5:68628005-68629115	GM12878	blood:	n/a	n/a
18	POLR2A	chr5:68628204-68629068	HUVEC	blood vessel:	n/a	n/a
19	MAX	chr5:68628220-68629123	A549	lung:	n/a	chr5:68628650-68628661 chr5:68628659-68628666 chr5:68628651-68628660 chr5:68628661-68628670 chr5:68628651-68628660 chr5:68628649-68628662 chr5:68628651-68628660
20	FOXA1	chr5:68628526-68629004	T-47D	breast:	n/a	n/a
21	TAF1	chr5:68628217-68628988	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr5:68628251-68629011	MCF-7	breast:	n/a	n/a
23	CEBPB	chr5:68628514-68629072	GM12878	blood:	n/a	n/a
24	HA-E2F1	chr5:68628315-68628999	MCF-7	breast:	n/a	chr5:68628615-68628624 chr5:68628626-68628636
25	USF1	chr5:68628313-68628969	ECC-1	luminal epithelium:	n/a	chr5:68628650-68628661 chr5:68628621-68628637
26	MAX	chr5:68628342-68628972	SK-N-SH	brain:	n/a	chr5:68628650-68628661 chr5:68628659-68628666 chr5:68628651-68628660 chr5:68628661-68628670 chr5:68628651-68628660 chr5:68628649-68628662 chr5:68628651-68628660
27	POLR2A	chr5:68628244-68629067	GM12878	blood:	n/a	n/a
28	NFIC	chr5:68628327-68629021	GM12878	blood:	n/a	n/a
29	SIN3AK20	chr5:68628212-68629071	MCF-7	breast:	n/a	n/a
30	USF1	chr5:68628376-68629000	HepG2	liver:	n/a	chr5:68628650-68628661 chr5:68628621-68628637
31	MAX	chr5:68628403-68628987	SK-N-SH	brain:	n/a	chr5:68628650-68628661 chr5:68628659-68628666 chr5:68628651-68628660 chr5:68628661-68628670 chr5:68628651-68628660 chr5:68628649-68628662 chr5:68628651-68628660
32	POLR2A	chr5:68628344-68628980	GM12892	blood:	n/a	n/a
33	MAX	chr5:68628269-68629104	MCF-7	breast:	n/a	chr5:68628650-68628661 chr5:68628659-68628666 chr5:68628651-68628660 chr5:68628661-68628670 chr5:68628651-68628660 chr5:68628649-68628662 chr5:68628651-68628660
34	MXI1	chr5:68628033-68629198	SK-N-SH	brain:	n/a	chr5:68628652-68628661
35	FOXA2	chr5:68628455-68629124	A549	lung:	n/a	n/a
36	YY1	chr5:68628318-68628972	GM12878	blood:	n/a	chr5:68628622-68628633 chr5:68628703-68628722
37	RUNX3	chr5:68628408-68629016	GM12878	blood:	n/a	n/a
38	FOXA1	chr5:68628257-68629042	HepG2	liver:	n/a	n/a
39	E2F6	chr5:68628409-68629009	A549	lung:	n/a	chr5:68628615-68628624 chr5:68628626-68628636
40	USF1	chr5:68628300-68629017	SK-N-SH	brain:	n/a	chr5:68628650-68628661 chr5:68628621-68628637
41	POLR2A	chr5:68628298-68628984	GM12892	blood:	n/a	n/a
42	MAX	chr5:68628394-68629029	H1-hESC	embryonic stem cell:	n/a	chr5:68628650-68628661 chr5:68628659-68628666 chr5:68628651-68628660 chr5:68628661-68628670 chr5:68628651-68628660 chr5:68628649-68628662 chr5:68628651-68628660
43	POLR2A	chr5:68628214-68629030	GM12892	blood:	n/a	n/a
44	ELF1	chr5:68628458-68628968	A549	lung:	n/a	chr5:68628522-68628534 chr5:68628625-68628634
45	TFAP2A	chr5:68628427-68629006	Hela-S3	cervix:	n/a	n/a
46	SP1	chr5:68628369-68629005	A549	lung:	n/a	n/a
47	POLR2A	chr5:68628410-68628989	PFSK-1	brain:	n/a	n/a
48	PML	chr5:68628345-68628959	MCF-7	breast:	n/a	n/a
49	REST	chr5:68628404-68629020	A549	lung:	n/a	chr5:68628786-68628806 chr5:68628439-68628459 chr5:68628535-68628555 chr5:68628442-68628455 chr5:68628535-68628555 chr5:68628536-68628554
50	MYC	chr5:68628402-68629058	A549	lung:	n/a	chr5:68628650-68628661 chr5:68628659-68628666 chr5:68628651-68628660 chr5:68628661-68628670 chr5:68628651-68628660 chr5:68628649-68628662 chr5:68628651-68628660

No.	Distal block	Cell Line	Cell type
1	chr5:68628802..68630677-chr5:68662896..68664873,2	K562	blood:
2	chr5:68628027..68630302-chr5:68663373..68666765,3	K562	blood:
3	chr5:68626792..68633026-chr5:68660168..68667090,13	MCF-7	breast:
4	chr5:68485299..68487066-chr5:68626120..68629033,4	MCF-7	breast:
5	chr5:68626462..68633259-chr5:68656360..68665608,14	MCF-7	breast:
6	chr5:68529975..68532202-chr5:68627120..68629377,3	MCF-7	breast:
7	chr5:68628511..68630857-chr5:68714273..68716319,2	MCF-7	breast:
8	chr5:68388706..68391393-chr5:68627238..68631529,6	MCF-7	breast:

Variant related genes	Relation type
CHCHD2P2	TF binding region
CCDC125	TF binding region
ENSG00000153044	Chromatin interaction
ENSG00000152939	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000085231	Chromatin interaction
ENSG00000145740	Chromatin interaction
ENSG00000134058	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv969960	chr5:68613678-68646127	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3515528	chr5:68624487-68653938	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3515529	chr5:68624487-68653938	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv881767	chr5:68625786-68733698	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv968922	chr5:68628679-68631659	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68627200-68629200	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr5:68627400-68629000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr5:68627400-68629000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr5:68627400-68629000	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr5:68627400-68629000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr5:68627400-68629000	Flanking Active TSS	NHEK	skin
7	chr5:68627400-68629200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:68627600-68629000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr5:68627600-68629000	Active TSS	Fetal Kidney	kidney
10	chr5:68627600-68629000	Active TSS	Thymus	Thymus
11	chr5:68627600-68629200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:68627800-68629000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr5:68627800-68629000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr5:68627800-68629000	Active TSS	Brain Hippocampus Middle	brain
15	chr5:68627800-68629000	Active TSS	Fetal Lung	lung
16	chr5:68627800-68629200	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr5:68627800-68629200	Active TSS	Stomach Smooth Muscle	stomach
18	chr5:68628000-68629000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:68628000-68629000	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr5:68628000-68629000	Active TSS	Psoas Muscle	Psoas
21	chr5:68628000-68629000	Flanking Active TSS	HUVEC	blood vessel
22	chr5:68628000-68629000	Flanking Active TSS	NH-A	brain
23	chr5:68628000-68629200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:68628000-68629200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:68628000-68629400	Active TSS	A549	lung
26	chr5:68628200-68629000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:68628200-68629000	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr5:68628200-68629000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:68628200-68629000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:68628200-68629000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:68628200-68629000	Active TSS	Brain Angular Gyrus	brain
32	chr5:68628200-68629000	Active TSS	Brain Cingulate Gyrus	brain
33	chr5:68628200-68629000	Active TSS	Brain Substantia Nigra	brain
34	chr5:68628200-68629000	Active TSS	Esophagus	oesophagus
35	chr5:68628200-68629000	Active TSS	Right Atrium	heart
36	chr5:68628200-68629000	Active TSS	Right Ventricle	heart
37	chr5:68628200-68629000	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr5:68628200-68629000	Active TSS	HSMM	muscle
39	chr5:68628200-68629200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:68628200-68629200	Active TSS	Hela-S3	cervix
41	chr5:68628400-68629000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:68628400-68629000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:68628400-68629000	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr5:68628400-68629000	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr5:68628400-68629000	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr5:68628400-68629000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:68628400-68629000	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr5:68628400-68629000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:68628400-68629000	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr5:68628400-68629000	Flanking Active TSS	Fetal Thymus	thymus

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