Variant report

Variant	rs45535235
Chromosome Location	chr4:175445470-175445471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr4:175445343-175445779	K562	blood:	n/a	n/a
2	ARID3A	chr4:175445435-175445665	K562	blood:	n/a	n/a
3	TEAD4	chr4:175445251-175445786	K562	blood:	n/a	n/a
4	STAT5A	chr4:175445362-175445774	K562	blood:	n/a	n/a
5	EP300	chr4:175445344-175445708	K562	blood:	n/a	n/a
6	TBL1XR1	chr4:175445446-175445718	K562	blood:	n/a	n/a
7	RCOR1	chr4:175445380-175445754	K562	blood:	n/a	n/a
8	JUND	chr4:175445425-175445787	K562	blood:	n/a	n/a
9	TAL1	chr4:175445319-175445682	K562	blood:	n/a	n/a
10	GABPA	chr4:175445467-175445711	K562	blood:	n/a	n/a
11	CBX3	chr4:175445389-175445767	K562	blood:	n/a	n/a
12	JUN	chr4:175445402-175445663	K562	blood:	n/a	n/a
13	NR2F2	chr4:175445298-175445800	K562	blood:	n/a	n/a
14	GABPA	chr4:175445398-175445779	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CEP44-1	chr4:175445332-175445678	XLOC_003787
2	lnc-HPGD-1	chr4:175444852-175445773	ENSG00000250596.1
3	lnc-CEP44-1	chr4:175445216-175445813	NONHSAT099320

No data

Variant related genes	Relation type
HPGD	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17524423	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17553108	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6812740	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv525487	chr4:175400104-175470867	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv880884	chr4:175439056-175453830	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175440800-175446000	Active TSS	Duodenum Mucosa	Duodenum
2	chr4:175442600-175445600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr4:175443400-175445800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:175444000-175445600	Flanking Active TSS	Liver	Liver
5	chr4:175444200-175446800	Weak transcription	Small Intestine	intestine
6	chr4:175444400-175445600	Weak transcription	Pancreas	Pancrea
7	chr4:175444600-175445600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr4:175444600-175445600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:175444600-175446400	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr4:175444800-175445600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr4:175444800-175445600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr4:175444800-175445800	Enhancers	K562	blood
13	chr4:175444800-175446000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:175444800-175449200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr4:175445000-175445600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
16	chr4:175445000-175445600	Enhancers	Fetal Intestine Small	intestine
17	chr4:175445000-175445800	Enhancers	Primary T cells from cord blood	blood
18	chr4:175445000-175445800	Enhancers	Primary hematopoietic stem cells	blood
19	chr4:175445000-175445800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr4:175445000-175446400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr4:175445000-175448000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:175445000-175452800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:175445000-175453600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:175445000-175457600	Weak transcription	Placenta	Placenta
25	chr4:175445200-175445600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr4:175445200-175445600	Flanking Active TSS	A549	lung
27	chr4:175445200-175445600	Enhancers	HepG2	liver
28	chr4:175445400-175445600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr4:175445400-175445600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
30	chr4:175445400-175445600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr4:175445400-175445800	Enhancers	Colon Smooth Muscle	Colon
32	chr4:175445400-175446000	Weak transcription	Fetal Intestine Large	intestine
33	chr4:175445400-175446400	Weak transcription	Stomach Mucosa	stomach

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