Variant report

Variant	rs7704498
Chromosome Location	chr5:75672484-75672485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr5:75672477-75673216	PBDE	blood:	n/a	n/a
2	CTCF	chr5:75672425-75672649	T-47D	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:75672467-75672517	SK-N-MC	brain:	n/a
2	chr5:75672467-75672517	BE2_C	brain:	n/a
3	chr5:75672467-75672517	HEK293	kidney:	embryo
4	chr5:75672467-75672517	SK-N-SH	brain:	n/a
5	chr5:75672467-75672517	LNCaP	prostate:	n/a
6	chr5:75672467-75672517	ovcar-3	ovarian:	n/a
7	chr5:75672467-75672517	PFSK-1	brain:	n/a
8	chr5:75672467-75672517	Hepatocyte	liver:	n/a
9	chr5:75672467-75672517	AG04449	skin:	fetal
10	chr5:75672467-75672517	GM12878	blood:	n/a
11	chr5:75672467-75672517	HEEpiC	esophagus:	n/a
12	chr5:75672467-75672517	K562	blood:	n/a
13	chr5:75672467-75672517	NHBE	bronchial:	n/a
14	chr5:75672467-75672517	HNPCEpiC	eye:	n/a
15	chr5:75672467-75672517	NT2-D1	testis:	n/a
16	chr5:75672467-75672517	HCPEpiC	choroid plexus:	n/a
17	chr5:75672467-75672517	MCF10A-Er-Src	breast:	n/a
18	chr5:75672467-75672517	U87	brain:	n/a
19	chr5:75672467-75672517	GM12891	blood:	n/a
20	chr5:75672467-75672517	CMK	blood:	n/a
21	chr5:75672467-75672517	HCF	heart:	n/a
22	chr5:75672467-75672517	GM19239	blood:	n/a
23	chr5:75672467-75672517	IMR90	lung:	fetal
24	chr5:75672467-75672517	AoSMC	blood vessel:	n/a
25	chr5:75672467-75672517	HPAEpiC	pulmonary alveolar:	n/a
26	chr5:75672467-75672517	HL-60	blood:	n/a
27	chr5:75672467-75672517	AG09319	gingival:	n/a
28	chr5:75672467-75672517	GM12892	blood:	n/a
29	chr5:75672467-75672517	RPTEC	kidney:	n/a
30	chr5:75672467-75672517	ProgFib	skin:	n/a
31	chr5:75672467-75672517	GM06990	blood:	n/a
32	chr5:75672467-75672517	Hela-S3	cervix:	n/a
33	chr5:75672467-75672517	ECC-1	luminal epithelium:	n/a
34	chr5:75672467-75672517	SK-N-SH_RA	brain:	n/a
35	chr5:75672467-75672517	HCT-116	colon:	n/a
36	chr5:75672467-75672517	HepG2	liver:	n/a
37	chr5:75672467-75672517	HAEpiC	amniotic membrane:	n/a
38	chr5:75672467-75672517	A549	lung:	n/a
39	chr5:75672467-75672517	BJ	skin:	n/a
40	chr5:75672467-75672517	HCM	heart:	n/a
41	chr5:75672467-75672517	HRPEpiC	eye:	n/a
42	chr5:75672467-75672517	AG04450	lung:	fetal
43	chr5:75672467-75672517	MCF-7	breast:	n/a
44	chr5:75672467-75672517	Jurkat	blood:	n/a
45	chr5:75672467-75672517	SAEC	small airway:	n/a
46	chr5:75672467-75672517	HMEC	breast:	n/a
47	chr5:75672467-75672517	PANC-1	pancreas:	n/a
48	chr5:75672467-75672517	T-47D	breast:	n/a
49	chr5:75672467-75672517	HRCEpiC	kidney:	n/a
50	chr5:75672467-75672517	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000251235	TF binding region
ENSG00000251235	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs57064503	0.95[ASN][1000 genomes]
rs6859353	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6859902	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6860083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6860113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6860973	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870948	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6872965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881881	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6882055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6886369	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6890217	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6893486	0.89[ASN][1000 genomes]
rs7704494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv980686	chr5:75671882-75674932	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr5:75668600-75676600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:75668800-75676400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:75669000-75672600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:75669000-75672800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:75669000-75676400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:75669000-75676400	Weak transcription	Placenta	Placenta
7	chr5:75669000-75676800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr5:75669000-75682400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:75669200-75672600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:75670800-75673200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:75671400-75673000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:75671400-75673000	Enhancers	K562	blood
13	chr5:75671600-75673000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr5:75671800-75672600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:75672000-75672800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:75672200-75672800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:75672200-75673000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:75672400-75672800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:75672400-75674200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr5:75672400-75674400	Weak transcription	HepG2	liver

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