Variant report

Variant	rs2231396
Chromosome Location	chr22:29659715-29659716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:29659624-29660768	K562	blood:	n/a	n/a
2	POLR2A	chr22:29659478-29660841	GM12878	blood:	n/a	n/a
3	POLR2A	chr22:29659603-29660492	GM12891	blood:	n/a	n/a
4	POLR2A	chr22:29658533-29660725	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr22:29659687-29660366	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr22:29659571-29660488	GM12891	blood:	n/a	n/a
7	POLR2A	chr22:29659392-29659756	GM12878	blood:	n/a	n/a
8	POLR2A	chr22:29659543-29660706	GM12891	blood:	n/a	n/a
9	POLR2A	chr22:29659681-29659861	K562	blood:	n/a	n/a
10	POLR2A	chr22:29659694-29660342	GM12878	blood:	n/a	n/a
11	POLR2A	chr22:29659621-29659755	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr22:29659615-29660151	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr22:29659393-29659816	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr22:29659551-29660515	K562	blood:	n/a	n/a
15	POLR2A	chr22:29659502-29660728	K562	blood:	n/a	n/a
16	POLR2A	chr22:29659463-29660685	GM12892	blood:	n/a	n/a
17	POLR2A	chr22:29654506-29660719	HepG2	liver:	n/a	n/a
18	POLR2A	chr22:29659656-29660430	GM19193	blood:	n/a	n/a
19	POLR2A	chr22:29659668-29659809	K562	blood:	n/a	n/a
20	POLR2A	chr22:29659440-29660763	GM12892	blood:	n/a	n/a
21	POLR2A	chr22:29659623-29660654	GM12878	blood:	n/a	n/a
22	POLR2A	chr22:29659599-29660551	GM12892	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29654217..29657445-chr22:29658284..29661902,3	MCF-7	breast:

No data

Variant related genes	Relation type
EWSR1	TF binding region
ENSG00000237015	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs174719	1.00[ASW][hapmap]
rs55801595	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5763140	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	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
4	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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29641600-29659800	Weak transcription	Ovary	ovary
2	chr22:29641600-29661800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr22:29642200-29659800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr22:29642600-29662400	Strong transcription	Fetal Intestine Small	intestine
5	chr22:29643600-29660400	Weak transcription	Fetal Kidney	kidney
6	chr22:29644600-29659800	Weak transcription	Brain Substantia Nigra	brain
7	chr22:29647400-29662000	Strong transcription	Fetal Stomach	stomach
8	chr22:29649000-29662400	Weak transcription	Fetal Brain Male	brain
9	chr22:29650200-29662600	Weak transcription	Stomach Mucosa	stomach
10	chr22:29650600-29659800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr22:29650600-29660000	Weak transcription	Primary T cells from cord blood	blood
12	chr22:29650600-29660200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr22:29650800-29659800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr22:29651000-29660000	Weak transcription	HepG2	liver
15	chr22:29652200-29659800	Weak transcription	HMEC	breast
16	chr22:29652400-29660200	Weak transcription	NHEK	skin
17	chr22:29653400-29659800	Weak transcription	NHLF	lung
18	chr22:29653600-29662200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr22:29654000-29659800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr22:29654200-29662600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr22:29654400-29659800	Weak transcription	Aorta	Aorta
22	chr22:29654400-29660000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr22:29654600-29659800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr22:29654600-29662200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr22:29654600-29662400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr22:29654600-29662400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr22:29654600-29662600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr22:29654800-29662400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr22:29655200-29661200	Weak transcription	GM12878-XiMat	blood
30	chr22:29655400-29659800	Weak transcription	Osteobl	bone
31	chr22:29655600-29662800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr22:29656400-29659800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr22:29656600-29659800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:29656600-29659800	Weak transcription	Gastric	stomach
35	chr22:29656800-29659800	Weak transcription	Esophagus	oesophagus
36	chr22:29656800-29659800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr22:29657000-29659800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr22:29657000-29660000	Weak transcription	Colonic Mucosa	Colon
39	chr22:29657000-29660000	Weak transcription	Left Ventricle	heart
40	chr22:29657200-29659800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr22:29657200-29659800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr22:29657200-29659800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr22:29657200-29659800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr22:29657200-29660000	Weak transcription	Brain Angular Gyrus	brain
45	chr22:29657200-29660000	Weak transcription	HSMMtube	muscle
46	chr22:29657400-29659800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr22:29657400-29659800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr22:29657400-29659800	Weak transcription	Fetal Brain Female	brain
49	chr22:29657400-29659800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr22:29657800-29660000	Weak transcription	Muscle Satellite Cultured Cells	--

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