Variant report

Variant	rs1076135
Chromosome Location	chr22:30238317-30238318
allele	A/T
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	CHD1	chr22:30238228-30239223	IMR90	lung:	n/a	n/a
2	RCOR1	chr22:30237882-30239576	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30238285..30239003-chr9:140485780..140486690,2	MCF-7	breast:
2	chr22:30211412..30212970-chr22:30236507..30238739,2	K562	blood:
3	chr22:30233635..30235405-chr22:30235774..30238672,2	MCF-7	breast:

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

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs131301	0.83[CEU][hapmap]
rs140147	0.85[CEU][hapmap]
rs1894474	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2007446	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2007458	0.82[CEU][hapmap]
rs249398	0.83[CEU][hapmap]
rs36576	0.89[CEU][hapmap]
rs41165	0.82[CEU][hapmap]
rs41168	0.85[CEU][hapmap]
rs41171	0.83[CEU][hapmap]
rs41173	0.83[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap]
rs5752961	0.83[CEU][hapmap];0.84[JPT][hapmap]
rs5752964	0.81[CEU][hapmap]
rs5752975	0.82[CEU][hapmap]
rs5752978	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs5763614	0.81[ASN][1000 genomes]
rs5997549	0.92[ASN][1000 genomes]
rs6006288	0.92[ASN][1000 genomes]
rs737911	0.82[CEU][hapmap]
rs81800	0.89[CEU][hapmap]
rs9306468	0.83[CEU][hapmap]
rs960987	0.81[ASN][1000 genomes]
rs997913	0.82[CEU][hapmap]

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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30234800-30238400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr22:30234800-30238400	Weak transcription	HSMMtube	muscle
3	chr22:30234800-30238400	Weak transcription	NH-A	brain
4	chr22:30234800-30239200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:30235000-30238400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:30235000-30238400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr22:30235000-30238400	Weak transcription	HUVEC	blood vessel
8	chr22:30235000-30238400	Weak transcription	NHLF	lung
9	chr22:30235000-30238600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr22:30235200-30238400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr22:30235200-30238600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr22:30235800-30238400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr22:30237600-30240000	Enhancers	NHDF-Ad	bronchial
14	chr22:30237800-30239000	Enhancers	A549	lung
15	chr22:30237800-30239600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr22:30237800-30239800	Enhancers	NHEK	skin
17	chr22:30237800-30240000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr22:30238000-30238600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr22:30238000-30239800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr22:30238200-30239000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr22:30238200-30239000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr22:30238200-30239000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr22:30238200-30239200	Enhancers	Hela-S3	cervix
24	chr22:30238200-30239400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr22:30238200-30239600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr22:30238200-30239600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr22:30238200-30239600	Enhancers	Stomach Mucosa	stomach
28	chr22:30238200-30239600	Enhancers	HepG2	liver
29	chr22:30238200-30239800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr22:30238200-30239800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr22:30238200-30239800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr22:30238200-30239800	Enhancers	Adipose Nuclei	Adipose
33	chr22:30238200-30239800	Enhancers	HMEC	breast
34	chr22:30238200-30239800	Enhancers	HSMM	muscle
35	chr22:30238200-30239800	Enhancers	Osteobl	bone
36	chr22:30238200-30240000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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