Variant report

Variant	rs3817839
Chromosome Location	chr22:29628096-29628097
allele	C/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:1)
LncRNA
region (count:1)
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	POLR2A	chr22:29626955-29629132	GM18951	blood:	n/a	n/a
2	POLR2A	chr22:29626413-29630403	GM12878	blood:	n/a	n/a
3	POLR2A	chr22:29627853-29628108	GM12878	blood:	n/a	n/a
4	NFATC1	chr22:29626175-29628712	GM12878	blood:	n/a	n/a
5	POLR2A	chr22:29625636-29630727	K562	blood:	n/a	n/a
6	BCL3	chr22:29627837-29628113	GM12878	blood:	n/a	n/a
7	POLR2A	chr22:29627964-29628111	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr22:29627501-29629586	GM12878	blood:	n/a	n/a
9	POLR2A	chr22:29627793-29629074	GM12878	blood:	n/a	n/a
10	POLR2A	chr22:29625696-29630751	PBDE	blood:	n/a	n/a
11	POLR2A	chr22:29626882-29629668	GM19193	blood:	n/a	n/a
12	POLR2A	chr22:29626976-29628852	GM19099	blood:	n/a	n/a
13	POLR2A	chr22:29627939-29628227	GM12892	blood:	n/a	n/a
14	POLR2A	chr22:29627948-29628109	K562	blood:	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: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1003703	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]
rs35269245	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3765294	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3765296	0.98[ASN][1000 genomes]
rs5752890	0.86[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763082	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs713992	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs909795	0.95[CHB][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:29 , 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	chr22:29622200-29628400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr22:29622200-29629800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:29622400-29628200	Weak transcription	Fetal Stomach	stomach
8	chr22:29622400-29628200	Weak transcription	Right Ventricle	heart
9	chr22:29622400-29628400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr22:29622400-29628400	Weak transcription	Right Atrium	heart
11	chr22:29622400-29656600	Weak transcription	Colonic Mucosa	Colon
12	chr22:29622600-29628400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:29622600-29628400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr22:29622600-29641400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr22:29622800-29628400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:29622800-29628400	Weak transcription	Fetal Intestine Large	intestine
17	chr22:29622800-29628400	Weak transcription	Fetal Lung	lung
18	chr22:29623000-29628400	Weak transcription	Fetal Muscle Leg	muscle
19	chr22:29623000-29628600	Weak transcription	Fetal Brain Female	brain
20	chr22:29626600-29630600	Enhancers	Spleen	Spleen
21	chr22:29627200-29629800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr22:29627600-29630200	Enhancers	Lung	lung
23	chr22:29627800-29629600	Enhancers	Liver	Liver
24	chr22:29627800-29629600	Enhancers	Gastric	stomach
25	chr22:29627800-29629800	Genic enhancers	Fetal Intestine Small	intestine
26	chr22:29627800-29630200	Enhancers	Ovary	ovary
27	chr22:29627800-29630200	Enhancers	Pancreas	Pancrea
28	chr22:29627800-29630600	Strong transcription	Dnd41	blood
29	chr22:29628000-29628200	Enhancers	HepG2	liver

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