Variant report

Variant	rs16992927
Chromosome Location	chr22:34136943-34136944
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	chr22:34136929-34137288	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr22:34136554-34137851	K562	blood:	n/a	n/a
3	POLR2A	chr22:34136942-34137289	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
LARGE-AS1	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11912486	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170901	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16992893	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16992903	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs16992940	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16992945	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes]
rs16992948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes]
rs16993099	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17735172	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17807797	0.87[CEU][hapmap];0.96[EUR][1000 genomes]
rs239314	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs239315	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4821184	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4821185	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5994791	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5999117	1.00[JPT][hapmap]
rs7285308	0.93[EUR][1000 genomes]
rs7285381	0.90[EUR][1000 genomes]
rs7286469	0.82[EUR][1000 genomes]
rs7286692	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7287632	1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs7287954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7290844	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs73170557	1.00[EUR][1000 genomes]
rs73170560	0.98[EUR][1000 genomes]
rs8138903	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 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
17	nsv914992	chr22:34135007-34283144	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr22:34111200-34146200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr22:34111800-34142800	Weak transcription	Fetal Intestine Small	intestine
3	chr22:34123200-34152000	Weak transcription	Aorta	Aorta
4	chr22:34123800-34140800	Weak transcription	Fetal Stomach	stomach
5	chr22:34124800-34171000	Weak transcription	Ovary	ovary
6	chr22:34126000-34137600	Weak transcription	Psoas Muscle	Psoas
7	chr22:34126200-34176200	Weak transcription	Spleen	Spleen
8	chr22:34128600-34143200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr22:34131000-34154200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr22:34133000-34137200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr22:34133000-34138000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr22:34133200-34137600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr22:34133400-34137200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr22:34133600-34140400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr22:34133800-34138000	Enhancers	Fetal Heart	heart
16	chr22:34133800-34147600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:34134000-34140400	Weak transcription	Lung	lung
18	chr22:34134400-34164800	Weak transcription	Brain Anterior Caudate	brain
19	chr22:34134600-34138000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr22:34134800-34138000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr22:34135000-34139200	Enhancers	Left Ventricle	heart
22	chr22:34135600-34141000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr22:34135800-34137600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr22:34136000-34140200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr22:34136200-34137400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr22:34136200-34137600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr22:34136200-34140600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:34136200-34148600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:34136200-34152800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr22:34136200-34152800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr22:34136400-34152600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr22:34136600-34137000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr22:34136800-34137000	Enhancers	Right Ventricle	heart
34	chr22:34136800-34138800	Enhancers	Primary B cells from peripheral blood	blood
35	chr22:34136800-34141400	Weak transcription	Right Atrium	heart
36	chr22:34136800-34152600	Weak transcription	H9 Cell Line	embryonic stem cell

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