Variant report

Variant	rs239323
Chromosome Location	chr22:34123827-34123828
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs239320	0.88[ASN][1000 genomes]
rs239322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239334	0.86[CHB][hapmap]
rs239335	0.82[CHB][hapmap]
rs239337	0.91[CHB][hapmap]
rs240092	1.00[YRI][hapmap]
rs445198	0.91[CHB][hapmap]
rs45774	0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv531588	chr22:33776857-34150188	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1055791	chr22:33822226-34159536	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv917167	chr22:33852676-34137036	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1062832	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv544686	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1055203	chr22:34098417-34196685	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv914991	chr22:34106384-34293516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv459878	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv588936	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1060684	chr22:34108462-34140653	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1056553	chr22:34116979-34286191	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv524432	chr22:34119866-34146368	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34105600-34133400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:34111200-34146200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr22:34111800-34142800	Weak transcription	Fetal Intestine Small	intestine
4	chr22:34116400-34135800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr22:34117200-34127400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr22:34119800-34124200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr22:34119800-34124800	Enhancers	Left Ventricle	heart
8	chr22:34120200-34125600	Weak transcription	Gastric	stomach
9	chr22:34120200-34125800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:34120200-34135600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr22:34120400-34135800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr22:34120800-34124200	Enhancers	Colon Smooth Muscle	Colon
13	chr22:34120800-34127400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr22:34121000-34124200	Enhancers	Pancreas	Pancrea
15	chr22:34121200-34125800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr22:34121200-34125800	Weak transcription	Spleen	Spleen
17	chr22:34121400-34124000	Enhancers	Rectal Smooth Muscle	rectum
18	chr22:34121400-34124800	Enhancers	Ovary	ovary
19	chr22:34121600-34125600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:34121600-34128200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr22:34121600-34130000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr22:34121600-34136800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr22:34122400-34124000	Enhancers	Right Atrium	heart
24	chr22:34122600-34124800	Enhancers	Right Ventricle	heart
25	chr22:34122800-34124200	Enhancers	Stomach Smooth Muscle	stomach
26	chr22:34122800-34125600	Weak transcription	Lung	lung
27	chr22:34122800-34125600	Weak transcription	Psoas Muscle	Psoas
28	chr22:34122800-34129600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr22:34123000-34124800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr22:34123000-34126200	Enhancers	Fetal Heart	heart
31	chr22:34123000-34128000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr22:34123000-34128200	Weak transcription	NHEK	skin
33	chr22:34123200-34152000	Weak transcription	Aorta	Aorta
34	chr22:34123600-34126800	Weak transcription	NHLF	lung
35	chr22:34123800-34124800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr22:34123800-34128000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr22:34123800-34129400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr22:34123800-34140800	Weak transcription	Fetal Stomach	stomach

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