Variant report

Variant	rs530539318
Chromosome Location	chr5:74670358-74670359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr5:74670198-74670581	HepG2	liver:	n/a	n/a
2	MAZ	chr5:74670341-74670492	HepG2	liver:	n/a	n/a
3	BHLHE40	chr5:74670189-74670530	HepG2	liver:	n/a	n/a
4	POLR2A	chr5:74669712-74670542	HepG2	liver:	n/a	n/a
5	EP300	chr5:74669819-74670564	HepG2	liver:	n/a	n/a
6	TCF7L2	chr5:74670220-74670649	HCT-116	colon:	n/a	n/a
7	EP300	chr5:74670202-74670582	HepG2	liver:	n/a	n/a
8	TBP	chr5:74670347-74670447	HepG2	liver:	n/a	n/a
9	MAX	chr5:74670091-74670636	HepG2	liver:	n/a	n/a
10	MXI1	chr5:74670221-74670527	HepG2	liver:	n/a	n/a
11	BHLHE40	chr5:74670215-74670528	HepG2	liver:	n/a	n/a
12	SP1	chr5:74670225-74670642	HepG2	liver:	n/a	n/a
13	FOXA2	chr5:74670250-74670512	HepG2	liver:	n/a	n/a
14	EP300	chr5:74670244-74670618	HepG2	liver:	n/a	n/a
15	MAX	chr5:74670215-74670577	HepG2	liver:	n/a	n/a
16	SMC3	chr5:74670346-74670595	HepG2	liver:	n/a	n/a
17	TCF7L2	chr5:74669804-74670898	HepG2	liver:	n/a	n/a
18	NR2F2	chr5:74670176-74670645	HepG2	liver:	n/a	n/a
19	FOXA1	chr5:74670165-74670584	HepG2	liver:	n/a	n/a
20	CEBPB	chr5:74670284-74670592	HepG2	liver:	n/a	chr5:74670514-74670525
21	ARID3A	chr5:74669706-74670670	HepG2	liver:	n/a	n/a
22	BHLHE40	chr5:74669765-74670604	HepG2	liver:	n/a	n/a
23	CEBPB	chr5:74670343-74670685	HepG2	liver:	n/a	chr5:74670514-74670525
24	CEBPB	chr5:74670274-74670718	HepG2	liver:	n/a	chr5:74670514-74670525
25	MAX	chr5:74669953-74670502	HepG2	liver:	n/a	n/a
26	FOXA1	chr5:74670203-74670553	HepG2	liver:	n/a	n/a
27	USF2	chr5:74670234-74670439	HepG2	liver:	n/a	n/a
28	FOXA1	chr5:74670184-74670619	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74631027..74633689-chr5:74669899..74673257,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMGCR-2	chr5:74670288-74670634	NONHSAT102207

No data

Variant related genes	Relation type
COL4A3BP	TF binding region
ENSG00000247372	Chromatin interaction
ENSG00000113161	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	nsv882192	chr5:74641707-74707762	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv980685	chr5:74669881-74670738	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	4 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	chr5:74656400-74670400	Weak transcription	Right Ventricle	heart
2	chr5:74656400-74673600	Weak transcription	Psoas Muscle	Psoas
3	chr5:74656400-74673600	Weak transcription	Small Intestine	intestine
4	chr5:74656400-74673600	Weak transcription	Spleen	Spleen
5	chr5:74656400-74674000	Weak transcription	Brain Germinal Matrix	brain
6	chr5:74656400-74674800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr5:74656400-74674800	Weak transcription	Brain Substantia Nigra	brain
8	chr5:74656400-74676800	Weak transcription	Fetal Brain Male	brain
9	chr5:74656400-74687200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:74656400-74725600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:74656600-74670600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr5:74656600-74675600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:74656600-74675800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:74656600-74675800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:74656600-74676800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr5:74656600-74677200	Weak transcription	Aorta	Aorta
17	chr5:74656600-74694800	Weak transcription	Brain Angular Gyrus	brain
18	chr5:74656800-74670400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:74656800-74676200	Weak transcription	Colonic Mucosa	Colon
20	chr5:74656800-74731400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr5:74657400-74674800	Weak transcription	A549	lung
22	chr5:74657600-74673600	Weak transcription	Lung	lung
23	chr5:74657800-74708000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:74658000-74674800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:74658400-74673200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:74658600-74673200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:74658600-74674800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr5:74658600-74674800	Weak transcription	Fetal Kidney	kidney
29	chr5:74659000-74674600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr5:74659200-74674800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:74659600-74673600	Weak transcription	Esophagus	oesophagus
32	chr5:74659600-74673600	Weak transcription	Gastric	stomach
33	chr5:74659600-74675800	Weak transcription	Brain Hippocampus Middle	brain
34	chr5:74659800-74673600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:74659800-74677000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:74659800-74684800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr5:74659800-74720600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:74660000-74674600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr5:74660000-74722800	Weak transcription	Fetal Heart	heart
40	chr5:74660200-74673600	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:74660200-74707800	Weak transcription	Stomach Mucosa	stomach
42	chr5:74660400-74670400	Weak transcription	HMEC	breast
43	chr5:74660400-74673600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:74661800-74683600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:74663200-74676800	Weak transcription	K562	blood
46	chr5:74664600-74670600	Weak transcription	Osteobl	bone
47	chr5:74664600-74674400	Weak transcription	NH-A	brain
48	chr5:74664600-74674600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr5:74664600-74676800	Weak transcription	NHLF	lung
50	chr5:74664600-74677000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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