Variant report

Variant	rs374635802
Chromosome Location	chr5:180047838-180047839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr5:180047580-180047868	K562	blood:	n/a	chr5:180047717-180047727

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No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180047798-180047848	HRE	kidney:	n/a
2	chr5:180047798-180047848	HNPCEpiC	eye:	n/a
3	chr5:180047798-180047848	BE2_C	brain:	n/a
4	chr5:180047798-180047848	GM19239	blood:	n/a
5	chr5:180047798-180047848	AG10803	skin:	n/a
6	chr5:180047798-180047848	HCT-116	colon:	n/a
7	chr5:180047798-180047848	SK-N-SH_RA	brain:	n/a
8	chr5:180047798-180047848	NT2-D1	testis:	n/a
9	chr5:180047798-180047848	BJ	skin:	n/a
10	chr5:180047798-180047848	HCM	heart:	n/a
11	chr5:180047798-180047848	ECC-1	luminal epithelium:	n/a
12	chr5:180047798-180047848	MCF-7	breast:	n/a
13	chr5:180047798-180047848	HEEpiC	esophagus:	n/a
14	chr5:180047798-180047848	HRPEpiC	eye:	n/a
15	chr5:180047798-180047848	HL-60	blood:	n/a
16	chr5:180047798-180047848	NH-A	brain:	n/a
17	chr5:180047798-180047848	SKMC	muscle:	n/a
18	chr5:180047798-180047848	AoSMC	blood vessel:	n/a
19	chr5:180047798-180047848	IMR90	lung:	fetal
20	chr5:180047798-180047848	SK-N-MC	brain:	n/a
21	chr5:180047798-180047848	GM06990	blood:	n/a
22	chr5:180047798-180047848	AG09309	skin:	n/a
23	chr5:180047798-180047848	HepG2	liver:	n/a
24	chr5:180047798-180047848	Hepatocyte	liver:	n/a
25	chr5:180047798-180047848	ProgFib	skin:	n/a
26	chr5:180047798-180047848	PANC-1	pancreas:	n/a
27	chr5:180047798-180047848	LNCaP	prostate:	n/a
28	chr5:180047798-180047848	HCF	heart:	n/a
29	chr5:180047798-180047848	H1-hESC	embryonic stem cell:	embryo
30	chr5:180047798-180047848	PFSK-1	brain:	n/a
31	chr5:180047798-180047848	NB4	blood:	n/a
32	chr5:180047798-180047848	AG04449	skin:	fetal
33	chr5:180047798-180047848	GM12878	blood:	n/a
34	chr5:180047798-180047848	RPTEC	kidney:	n/a
35	chr5:180047798-180047848	AG09319	gingival:	n/a
36	chr5:180047798-180047848	SK-N-SH	brain:	n/a
37	chr5:180047798-180047848	A549	lung:	n/a
38	chr5:180047798-180047848	T-47D	breast:	n/a
39	chr5:180047798-180047848	GM12891	blood:	n/a
40	chr5:180047798-180047848	ovcar-3	ovarian:	n/a
41	chr5:180047798-180047848	NHDF-neo	bronchial:	n/a
42	chr5:180047798-180047848	Jurkat	blood:	n/a
43	chr5:180047798-180047848	HEK293	kidney:	embryo
44	chr5:180047798-180047848	HAEpiC	amniotic membrane:	n/a
45	chr5:180047798-180047848	CMK	blood:	n/a
46	chr5:180047798-180047848	U87	brain:	n/a
47	chr5:180047798-180047848	Hela-S3	cervix:	n/a
48	chr5:180047798-180047848	HCPEpiC	choroid plexus:	n/a
49	chr5:180047798-180047848	K562	blood:	n/a
50	chr5:180047798-180047848	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:180047630..180050366-chr5:180050889..180052970,2	K562	blood:
2	chr5:180047660..180049691-chr5:180056996..180059691,2	K562	blood:

No data

Variant related genes	Relation type
FLT4	TF binding region
FLT4	CpG island

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
2	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
5	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
6	esv2762572	chr5:179996987-180183359	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv533204	chr5:180008319-180273638	Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
8	nsv883292	chr5:180010639-180057231	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv883293	chr5:180010639-180074248	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv883294	chr5:180010639-180094042	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv883295	chr5:180010639-180102226	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1015152	chr5:180014800-180567614	Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
13	nsv537987	chr5:180014800-180567614	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
14	nsv462585	chr5:180031131-180069852	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	nsv600669	chr5:180031131-180069852	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv883296	chr5:180033292-180069852	Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv528843	chr5:180033292-180074248	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	nsv883297	chr5:180033292-180094042	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	esv1824954	chr5:180034220-180080178	Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv528522	chr5:180041662-180063743	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv600670	chr5:180047412-180063743	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	nsv883298	chr5:180047412-180081766	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180040000-180061200	Weak transcription	Gastric	stomach
2	chr5:180046000-180049600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr5:180046000-180050200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr5:180046200-180071800	Weak transcription	Liver	Liver
5	chr5:180046400-180049800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr5:180046400-180050000	Weak transcription	Primary T cells from cord blood	blood
7	chr5:180046400-180050600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:180046400-180051400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:180046400-180072200	Weak transcription	Right Atrium	heart
10	chr5:180046600-180049200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr5:180046800-180048800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:180046800-180050200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:180046800-180050600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:180046800-180059600	Weak transcription	Pancreas	Pancrea
15	chr5:180047000-180048800	Bivalent Enhancer	Placenta	Placenta
16	chr5:180047600-180048400	Weak transcription	Lung	lung
17	chr5:180047800-180048000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:180047800-180048000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:180047800-180048800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:180047800-180048800	ZNF genes & repeats	Spleen	Spleen

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