Variant report

Variant	rs2857461
Chromosome Location	chr22:29668004-29668005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:29667505-29668112	GM12878	blood:	n/a	n/a
2	POLR2A	chr22:29667679-29668021	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr22:29667448-29668300	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr22:29667322-29668275	GM12878	blood:	n/a	n/a
5	POLR2A	chr22:29667516-29668262	HepG2	liver:	n/a	n/a
6	POLR2A	chr22:29667526-29668224	GM12892	blood:	n/a	n/a
7	POLR2A	chr22:29668002-29668188	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr22:29667454-29668054	GM12892	blood:	n/a	n/a
9	POLR2A	chr22:29667970-29668087	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr22:29663864-29670382	HepG2	liver:	n/a	n/a
11	POLR2A	chr22:29667968-29668046	MCF-7	breast:	n/a	n/a
12	POLR2A	chr22:29667432-29668240	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29665589..29670159-chr22:29686550..29689191,4	K562	blood:
2	chr22:29667551..29671101-chr22:29682510..29685609,3	K562	blood:
3	chr22:29666189..29669898-chr22:29695758..29699606,3	K562	blood:
4	chr22:29665295..29668122-chr22:29705203..29707099,3	MCF-7	breast:

No data

Variant related genes	Relation type
RHBDD3	TF binding region
EWSR1	TF binding region
ENSG00000185340	Chromatin interaction
ENSG00000182944	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs131179	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs131185	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16987416	0.91[EUR][1000 genomes]
rs2857463	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28855489	0.91[EUR][1000 genomes]
rs6006095	0.91[EUR][1000 genomes]
rs6006096	0.91[EUR][1000 genomes]
rs7285125	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7286220	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]

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	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
3	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
4	nsv829155	chr22:29664396-29724001	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29664800-29669600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr22:29665000-29669800	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr22:29665200-29668200	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr22:29665400-29668600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr22:29665400-29668800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
6	chr22:29665600-29670400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
7	chr22:29665800-29672600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr22:29666000-29668200	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
9	chr22:29666200-29668400	Enhancers	Small Intestine	intestine
10	chr22:29666200-29672800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:29666400-29668600	Weak transcription	Pancreas	Pancrea
12	chr22:29666400-29669200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:29666400-29669200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
14	chr22:29666400-29669400	Weak transcription	Lung	lung
15	chr22:29666400-29672600	Weak transcription	Spleen	Spleen
16	chr22:29666400-29672800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:29666600-29668200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr22:29666600-29668200	Enhancers	Colonic Mucosa	Colon
19	chr22:29666600-29668600	Enhancers	Stomach Mucosa	stomach
20	chr22:29666600-29668800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr22:29666600-29668800	Genic enhancers	Primary B cells from peripheral blood	blood
22	chr22:29666600-29669400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr22:29666600-29670400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
24	chr22:29666800-29668200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
25	chr22:29666800-29668200	Genic enhancers	Fetal Muscle Leg	muscle
26	chr22:29666800-29674000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr22:29667000-29668200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
28	chr22:29667000-29668200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
29	chr22:29667000-29668400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr22:29667000-29668400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr22:29667000-29668400	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr22:29667000-29668400	Enhancers	Fetal Heart	heart
33	chr22:29667000-29668600	Genic enhancers	Primary B cells from cord blood	blood
34	chr22:29667000-29668600	Genic enhancers	Primary hematopoietic stem cells	blood
35	chr22:29667000-29668800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr22:29667000-29669000	Genic enhancers	Primary T cells fromperipheralblood	blood
37	chr22:29667000-29669000	Enhancers	Brain Substantia Nigra	brain
38	chr22:29667000-29675400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr22:29667200-29668200	Genic enhancers	H1 Cell Line	embryonic stem cell
40	chr22:29667200-29668200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr22:29667200-29668200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr22:29667200-29668200	Enhancers	Right Ventricle	heart
43	chr22:29667200-29668200	Genic enhancers	K562	blood
44	chr22:29667200-29668400	Enhancers	Brain Hippocampus Middle	brain
45	chr22:29667200-29668600	Genic enhancers	Muscle Satellite Cultured Cells	--
46	chr22:29667200-29668600	Enhancers	Colon Smooth Muscle	Colon
47	chr22:29667200-29668600	Weak transcription	HSMMtube	muscle
48	chr22:29667200-29668800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr22:29667200-29668800	Genic enhancers	HSMM	muscle
50	chr22:29667200-29669400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland

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