Variant report

Variant	rs1003703
Chromosome Location	chr22:29628615-29628616
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:29628532-29628640	HepG2	liver:	n/a	n/a
2	POLR2A	chr22:29626955-29629132	GM18951	blood:	n/a	n/a
3	POLR2A	chr22:29628580-29628640	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr22:29626413-29630403	GM12878	blood:	n/a	n/a
5	CTCF	chr22:29628480-29628630	HepG2	liver:	n/a	n/a
6	BCL3	chr22:29628218-29628633	GM12878	blood:	n/a	n/a
7	RCOR1	chr22:29628501-29628893	HepG2	liver:	n/a	n/a
8	POLR2A	chr22:29628319-29628945	GM12892	blood:	n/a	n/a
9	MAX	chr22:29628399-29628738	HepG2	liver:	n/a	n/a
10	NFATC1	chr22:29626175-29628712	GM12878	blood:	n/a	n/a
11	POLR2A	chr22:29625636-29630727	K562	blood:	n/a	n/a
12	CHD2	chr22:29628513-29628664	GM12878	blood:	n/a	n/a
13	POLR2A	chr22:29627501-29629586	GM12878	blood:	n/a	n/a
14	POLR2A	chr22:29627793-29629074	GM12878	blood:	n/a	n/a
15	POLR2A	chr22:29628381-29628634	GM12878	blood:	n/a	n/a
16	POLR2A	chr22:29625696-29630751	PBDE	blood:	n/a	n/a
17	POLR2A	chr22:29626882-29629668	GM19193	blood:	n/a	n/a
18	HEY1	chr22:29628472-29628837	HepG2	liver:	n/a	n/a
19	POLR2A	chr22:29628489-29628742	GM12878	blood:	n/a	n/a
20	POLR2A	chr22:29626976-29628852	GM19099	blood:	n/a	n/a
21	ELF1	chr22:29628595-29628929	GM12878	blood:	n/a	n/a
22	MAX	chr22:29628282-29629058	HepG2	liver:	n/a	n/a
23	ELF1	chr22:29628582-29628856	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	chr22:29601210..29603979-chr22:29627327..29629637,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EWSR1-4	chr22:29627671-29629457	NONHSAT084681

No data

Variant related genes	Relation type
EMID1	TF binding region
ENSG00000186998	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2281157	0.84[CHD][hapmap]
rs35269245	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3765294	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3765296	0.99[ASN][1000 genomes]
rs3817839	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4820801	0.84[CHD][hapmap]
rs5752890	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.80[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763082	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs713992	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs909795	0.95[CHB][hapmap];0.84[LWK][hapmap];0.90[MKK][hapmap]

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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv1809952	chr22:29595349-29661434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv1806500	chr22:29604787-29635071	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv522714	chr22:29612508-29630337	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29621800-29630200	Weak transcription	Brain Germinal Matrix	brain
2	chr22:29622000-29629000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr22:29622000-29655200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr22:29622000-29655800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr22:29622200-29629800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr22:29622400-29656600	Weak transcription	Colonic Mucosa	Colon
7	chr22:29622600-29641400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr22:29626600-29630600	Enhancers	Spleen	Spleen
9	chr22:29627200-29629800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr22:29627600-29630200	Enhancers	Lung	lung
11	chr22:29627800-29629600	Enhancers	Liver	Liver
12	chr22:29627800-29629600	Enhancers	Gastric	stomach
13	chr22:29627800-29629800	Genic enhancers	Fetal Intestine Small	intestine
14	chr22:29627800-29630200	Enhancers	Ovary	ovary
15	chr22:29627800-29630200	Enhancers	Pancreas	Pancrea
16	chr22:29627800-29630600	Strong transcription	Dnd41	blood
17	chr22:29628200-29629000	Genic enhancers	Fetal Stomach	stomach
18	chr22:29628200-29629200	Flanking Active TSS	HepG2	liver
19	chr22:29628200-29629600	Enhancers	Adipose Nuclei	Adipose
20	chr22:29628200-29629600	Enhancers	Right Ventricle	heart
21	chr22:29628400-29628800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr22:29628400-29629000	Enhancers	Fetal Muscle Leg	muscle
23	chr22:29628400-29629400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr22:29628400-29629400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr22:29628400-29629400	Enhancers	Right Atrium	heart
26	chr22:29628400-29629400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr22:29628400-29629600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr22:29628400-29629600	Enhancers	Left Ventricle	heart
29	chr22:29628400-29629800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:29628400-29630200	Genic enhancers	Fetal Intestine Large	intestine
31	chr22:29628400-29641200	Weak transcription	Fetal Brain Male	brain
32	chr22:29628600-29628800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr22:29628600-29628800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr22:29628600-29628800	Genic enhancers	Fetal Lung	lung
35	chr22:29628600-29629000	Enhancers	Brain Anterior Caudate	brain
36	chr22:29628600-29629800	Enhancers	HUVEC	blood vessel
37	chr22:29628600-29630600	Strong transcription	Fetal Brain Female	brain

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