Variant report

Variant	rs16992713
Chromosome Location	chr22:34048399-34048400
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10427855	1.00[AMR][1000 genomes]
rs11912153	0.81[ASN][1000 genomes]
rs11912667	0.94[ASN][1000 genomes]
rs11913899	0.81[ASN][1000 genomes]
rs11914217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12158217	1.00[AMR][1000 genomes]
rs12168206	1.00[AMR][1000 genomes]
rs16985355	0.94[ASN][1000 genomes]
rs16992586	1.00[AMR][1000 genomes]
rs16992591	1.00[AMR][1000 genomes]
rs16992612	1.00[AMR][1000 genomes]
rs16992638	1.00[AMR][1000 genomes]
rs16992698	0.94[ASN][1000 genomes]
rs16992711	1.00[ASN][1000 genomes]
rs16992725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16992766	1.00[AMR][1000 genomes]
rs16992772	1.00[AMR][1000 genomes]
rs16992774	1.00[AMR][1000 genomes]
rs16992778	1.00[AMR][1000 genomes]
rs16992847	1.00[AMR][1000 genomes]
rs16992860	1.00[AMR][1000 genomes]
rs16992861	1.00[AMR][1000 genomes]
rs16992896	1.00[AMR][1000 genomes]
rs1869937	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1869938	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4821169	1.00[ASN][1000 genomes]
rs57806024	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60298479	0.94[ASN][1000 genomes]
rs73398737	0.94[ASN][1000 genomes]
rs73400711	0.94[ASN][1000 genomes]
rs73400712	0.94[ASN][1000 genomes]
rs73400714	0.94[ASN][1000 genomes]
rs73400715	0.94[ASN][1000 genomes]

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	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	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
3	nsv1062127	chr22:33755479-34085278	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv544683	chr22:33755479-34085278	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv1065417	chr22:33823850-34053325	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv933309	chr22:33825232-34053000	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	nsv914988	chr22:33975998-34083987	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv934161	chr22:33979015-34118621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv588935	chr22:34008430-34073758	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv914989	chr22:34011334-34083987	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33994200-34050600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:33995800-34049800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr22:34003000-34062400	Weak transcription	Gastric	stomach
4	chr22:34007200-34050400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:34017000-34050400	Weak transcription	Colonic Mucosa	Colon
6	chr22:34019400-34050600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:34021400-34053000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr22:34028200-34048400	Weak transcription	HepG2	liver
9	chr22:34033400-34049800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr22:34036600-34048800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:34036800-34055000	Weak transcription	Brain Anterior Caudate	brain
12	chr22:34037400-34049800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr22:34040200-34056200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:34042200-34048400	Weak transcription	Stomach Mucosa	stomach
15	chr22:34043000-34054800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr22:34043400-34050600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr22:34043800-34048800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr22:34044200-34048400	Weak transcription	Fetal Intestine Small	intestine
19	chr22:34044400-34062200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr22:34045200-34048400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr22:34045200-34048600	Weak transcription	Fetal Heart	heart
22	chr22:34045200-34049000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr22:34045200-34053000	Weak transcription	Liver	Liver
24	chr22:34045800-34049600	Weak transcription	Psoas Muscle	Psoas
25	chr22:34046000-34048400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr22:34046200-34049200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr22:34046200-34053400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr22:34046400-34050200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr22:34046400-34050400	Weak transcription	Fetal Lung	lung
30	chr22:34046400-34053000	Weak transcription	Right Atrium	heart
31	chr22:34046400-34055000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr22:34046400-34055400	Weak transcription	Fetal Muscle Leg	muscle
33	chr22:34046600-34048400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:34046600-34048600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr22:34046600-34048800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr22:34046600-34048800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr22:34046600-34049800	Weak transcription	Lung	lung
38	chr22:34046600-34050200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr22:34046600-34050600	Weak transcription	Colon Smooth Muscle	Colon
40	chr22:34046600-34052400	Weak transcription	Ovary	ovary
41	chr22:34046600-34053000	Weak transcription	Pancreas	Pancrea
42	chr22:34046600-34056200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr22:34046600-34056400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr22:34046600-34059400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr22:34046800-34048400	Weak transcription	Fetal Intestine Large	intestine
46	chr22:34046800-34048600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr22:34046800-34049000	Weak transcription	Left Ventricle	heart
48	chr22:34046800-34050200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr22:34046800-34050200	Weak transcription	Aorta	Aorta
50	chr22:34046800-34050600	Weak transcription	Adipose Nuclei	Adipose

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