Variant report

Variant	rs36574
Chromosome Location	chr22:30204980-30204981
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30203989..30206698-chr22:30207811..30209768,4	MCF-7	breast:
2	chr22:30203954..30206021-chr22:30210250..30212247,2	MCF-7	breast:
3	chr22:30193309..30197041-chr22:30202385..30207780,5	MCF-7	breast:
4	chr22:30203646..30205505-chr22:30211553..30214467,2	K562	blood:

Variant related genes	Relation type
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs105311	0.85[EUR][1000 genomes]
rs1138120	0.93[ASN][1000 genomes]
rs131260	0.85[EUR][1000 genomes]
rs131261	0.85[EUR][1000 genomes]
rs131264	0.85[EUR][1000 genomes]
rs131265	0.85[EUR][1000 genomes]
rs131266	0.85[EUR][1000 genomes]
rs131270	0.85[EUR][1000 genomes]
rs131271	0.86[EUR][1000 genomes]
rs131272	0.86[EUR][1000 genomes]
rs131273	0.86[EUR][1000 genomes]
rs131277	0.86[EUR][1000 genomes]
rs131279	0.86[EUR][1000 genomes]
rs131281	0.86[EUR][1000 genomes]
rs131282	0.86[EUR][1000 genomes]
rs131285	0.86[EUR][1000 genomes]
rs131286	0.86[EUR][1000 genomes]
rs131293	0.88[ASN][1000 genomes]
rs131295	0.90[ASN][1000 genomes]
rs131301	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs140102	0.84[EUR][1000 genomes]
rs140103	0.84[EUR][1000 genomes]
rs140107	0.84[EUR][1000 genomes]
rs140110	0.82[EUR][1000 genomes]
rs140111	0.82[EUR][1000 genomes]
rs140120	0.83[EUR][1000 genomes]
rs140121	0.85[EUR][1000 genomes]
rs140123	0.85[EUR][1000 genomes]
rs140129	0.85[EUR][1000 genomes]
rs140131	0.86[EUR][1000 genomes]
rs140133	0.86[EUR][1000 genomes]
rs140145	0.93[ASN][1000 genomes]
rs140149	0.92[ASN][1000 genomes]
rs140150	0.93[ASN][1000 genomes]
rs17711377	0.94[ASN][1000 genomes]
rs2057882	0.94[ASN][1000 genomes]
rs2074706	0.94[ASN][1000 genomes]
rs2074707	0.95[ASN][1000 genomes]
rs2079338	0.94[ASN][1000 genomes]
rs249398	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28749829	0.95[ASN][1000 genomes]
rs36576	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5752961	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5752964	0.96[ASN][1000 genomes]
rs5763512	0.96[ASN][1000 genomes]
rs5997529	0.90[ASN][1000 genomes]
rs5997530	0.94[ASN][1000 genomes]
rs5997535	0.89[ASN][1000 genomes]
rs6006274	0.90[ASN][1000 genomes]
rs713656	0.96[ASN][1000 genomes]
rs713657	0.96[ASN][1000 genomes]
rs740041	0.94[ASN][1000 genomes]
rs81800	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9306465	0.96[ASN][1000 genomes]
rs9614055	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30182200-30217000	Strong transcription	Fetal Intestine Small	intestine
3	chr22:30182200-30222200	Strong transcription	Thymus	Thymus
4	chr22:30182800-30232200	Strong transcription	Primary T cells from cord blood	blood
5	chr22:30182800-30232200	Strong transcription	Fetal Stomach	stomach
6	chr22:30183000-30221400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr22:30183200-30230800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr22:30183400-30224000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr22:30183400-30230800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr22:30183800-30205000	Strong transcription	Fetal Intestine Large	intestine
11	chr22:30183800-30205200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr22:30183800-30224000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:30183800-30232200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr22:30184000-30222200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:30191000-30222200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr22:30193400-30217200	Strong transcription	Fetal Thymus	thymus
17	chr22:30194200-30212200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr22:30195200-30205000	Strong transcription	Brain Cingulate Gyrus	brain
19	chr22:30195400-30205400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr22:30195400-30222000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr22:30195400-30222200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr22:30195600-30205000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr22:30195600-30208200	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr22:30195800-30205000	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr22:30196000-30205000	Strong transcription	Aorta	Aorta
26	chr22:30196000-30205000	Strong transcription	Brain Hippocampus Middle	brain
27	chr22:30196000-30212000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr22:30196000-30217000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr22:30196200-30205000	Strong transcription	Spleen	Spleen
30	chr22:30196200-30207000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr22:30196200-30211800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr22:30196200-30215400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr22:30196200-30217200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr22:30196200-30217200	Strong transcription	Duodenum Mucosa	Duodenum
35	chr22:30196200-30222200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr22:30196200-30222200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr22:30196400-30211800	Strong transcription	Placenta	Placenta
38	chr22:30196400-30221200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr22:30197000-30206200	Strong transcription	Liver	Liver
40	chr22:30197000-30222200	Strong transcription	Dnd41	blood
41	chr22:30197400-30216000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr22:30197400-30216200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr22:30197800-30206000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr22:30198000-30211800	Strong transcription	Left Ventricle	heart
45	chr22:30198200-30205000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr22:30198200-30211800	Weak transcription	Right Atrium	heart
47	chr22:30198400-30207200	Weak transcription	Hela-S3	cervix
48	chr22:30199200-30211800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr22:30199200-30222000	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr22:30199400-30205000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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