Variant report

Variant	rs16986630
Chromosome Location	chr22:29106547-29106548
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29106300..29106832-chr6:153441688..153442188,2	Hela-S3	cervix:

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16986646	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986711	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs16986739	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs17879919	1.00[AMR][1000 genomes]
rs17882867	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17883328	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17885975	1.00[AMR][1000 genomes]
rs17885996	1.00[AMR][1000 genomes]
rs1805129	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2180459	1.00[JPT][hapmap]
rs5762681	1.00[JPT][hapmap]
rs6005807	1.00[JPT][hapmap]
rs6005844	0.86[EUR][1000 genomes]
rs6005846	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005851	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv459867	chr22:28993183-29109036	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv588881	chr22:28993183-29109036	Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv9895	chr22:29029961-29184277	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1064624	chr22:29065528-29130728	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv513775	chr22:29083731-29137822	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv517951	chr22:29105558-29135889	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29076200-29137600	Weak transcription	Esophagus	oesophagus
2	chr22:29076400-29119200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:29076400-29129400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr22:29079600-29130200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:29082200-29109800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr22:29082800-29137600	Weak transcription	Spleen	Spleen
7	chr22:29083000-29126600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:29085000-29116600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr22:29086200-29106600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr22:29088600-29118600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr22:29090200-29129000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr22:29090400-29110800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:29090600-29137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:29090600-29137200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr22:29090800-29108000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr22:29091000-29116600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr22:29091000-29120200	Weak transcription	Placenta	Placenta
18	chr22:29092000-29108600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:29093600-29121800	Weak transcription	Small Intestine	intestine
20	chr22:29093600-29132000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr22:29093800-29126600	Weak transcription	Gastric	stomach
22	chr22:29094600-29125000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr22:29095200-29114600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr22:29097000-29130800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr22:29098600-29108000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr22:29098800-29111400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr22:29099000-29109600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr22:29099400-29109800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr22:29099800-29129000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr22:29100400-29137200	Weak transcription	Pancreas	Pancrea
31	chr22:29101200-29118800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr22:29101400-29107200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr22:29101600-29131000	Strong transcription	Dnd41	blood
34	chr22:29102000-29108200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr22:29102000-29108200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr22:29102400-29119600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:29102800-29108200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr22:29103200-29107600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr22:29103400-29118800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr22:29103600-29107800	Enhancers	Hela-S3	cervix
41	chr22:29103600-29108200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr22:29103600-29114600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr22:29103600-29118800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr22:29103600-29124800	Weak transcription	GM12878-XiMat	blood
45	chr22:29103600-29132200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr22:29103800-29107400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr22:29103800-29114800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr22:29104000-29107400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr22:29104200-29116600	Weak transcription	Thymus	Thymus
50	chr22:29104400-29116600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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