Variant report

Variant	rs61413958
Chromosome Location	chr22:30231149-30231150
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:30231077-30231243	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30221897..30227952-chr22:30230604..30235599,8	MCF-7	breast:
2	chr22:30228718..30231367-chr22:30232651..30236541,5	K562	blood:
3	chr22:30161269..30163676-chr22:30230353..30231980,2	MCF-7	breast:

Variant related genes	Relation type
ASCC2	TF binding region
ENSG00000100319	Chromatin interaction
ENSG00000184076	Chromatin interaction
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1071962	0.81[ASN][1000 genomes]
rs12628294	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59394320	0.85[AMR][1000 genomes]
rs60805530	0.81[ASN][1000 genomes]
rs61736786	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73394838	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30182800-30232200	Strong transcription	Primary T cells from cord blood	blood
3	chr22:30182800-30232200	Strong transcription	Fetal Stomach	stomach
4	chr22:30183800-30232200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr22:30203600-30233400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:30208800-30231200	Strong transcription	Lung	lung
7	chr22:30208800-30233400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:30209800-30233600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:30215200-30233200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:30218200-30232200	Strong transcription	Fetal Intestine Small	intestine
11	chr22:30218400-30233000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr22:30218600-30233400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:30219000-30232000	Weak transcription	Fetal Brain Male	brain
14	chr22:30219600-30233400	Weak transcription	Fetal Kidney	kidney
15	chr22:30220000-30231600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr22:30221400-30233400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr22:30221600-30233400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr22:30221800-30233400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr22:30221800-30233600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr22:30222000-30232800	Weak transcription	Hela-S3	cervix
21	chr22:30222000-30233600	Weak transcription	Small Intestine	intestine
22	chr22:30223000-30231200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr22:30223000-30231600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr22:30223000-30232200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr22:30223000-30232200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr22:30223000-30232200	Strong transcription	Stomach Smooth Muscle	stomach
27	chr22:30223400-30231600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:30223800-30231200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr22:30224200-30233200	Weak transcription	Right Atrium	heart
30	chr22:30224400-30232000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr22:30224400-30232000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr22:30224800-30233000	Weak transcription	Pancreas	Pancrea
33	chr22:30225000-30232200	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr22:30225800-30231200	Strong transcription	Fetal Intestine Large	intestine
35	chr22:30225800-30231200	Strong transcription	Ovary	ovary
36	chr22:30225800-30232000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:30226800-30232000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr22:30226800-30232000	Strong transcription	Fetal Muscle Trunk	muscle
39	chr22:30227200-30232800	Weak transcription	A549	lung
40	chr22:30227600-30233400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr22:30228000-30232200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr22:30228000-30233400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr22:30228000-30233400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr22:30228200-30231400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr22:30228200-30231600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr22:30228200-30231600	Weak transcription	HUVEC	blood vessel
47	chr22:30228200-30232000	Weak transcription	HMEC	breast
48	chr22:30228200-30233000	Weak transcription	Gastric	stomach
49	chr22:30228400-30232600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr22:30228400-30232800	Weak transcription	Psoas Muscle	Psoas

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