Variant report

Variant	rs372108
Chromosome Location	chr22:22043596-22043597
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:22043464..22046339-chr22:22046571..22048185,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11704601	1.00[AFR][1000 genomes]
rs11705259	1.00[AFR][1000 genomes]
rs1210390	0.81[ASN][1000 genomes]
rs1210407	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1210408	0.94[ASN][1000 genomes]
rs1210412	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs131666	1.00[AFR][1000 genomes]
rs34592211	1.00[AFR][1000 genomes]
rs35113423	1.00[AFR][1000 genomes]
rs35445502	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35844718	1.00[AFR][1000 genomes]
rs366026	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs368351	0.84[ASN][1000 genomes]
rs372150	0.85[ASN][1000 genomes]
rs374659	0.85[ASN][1000 genomes]
rs3747091	1.00[AFR][1000 genomes]
rs379591	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs388113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs390720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs391324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs394073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs395006	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs402225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs402548	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs409796	0.87[ASN][1000 genomes]
rs412596	0.82[ASN][1000 genomes]
rs416661	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs425046	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs428595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs429623	0.86[ASN][1000 genomes]
rs436570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs451422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs452649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs459265	1.00[AFR][1000 genomes]
rs5754787	0.87[AMR][1000 genomes]
rs57965798	1.00[AFR][1000 genomes]
rs710169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs710170	1.00[AMR][1000 genomes]
rs710173	0.87[AMR][1000 genomes]
rs71314788	1.00[AFR][1000 genomes]
rs861815	1.00[AMR][1000 genomes]
rs861819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs861822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9609947	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
4	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
5	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
6	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
7	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
8	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
9	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
10	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
11	nsv914467	chr22:21982892-22055280	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
12	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
13	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
14	nsv510804	chr22:22024531-22132764	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22022000-22055600	Weak transcription	Fetal Brain Male	brain
2	chr22:22022200-22053200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr22:22024400-22053200	Strong transcription	Placenta	Placenta
4	chr22:22024800-22052200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:22026600-22054200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr22:22027000-22049200	Weak transcription	Fetal Heart	heart
7	chr22:22027000-22055800	Weak transcription	Fetal Kidney	kidney
8	chr22:22027200-22045800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr22:22027600-22051000	Weak transcription	Psoas Muscle	Psoas
10	chr22:22030400-22046200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr22:22030400-22051600	Weak transcription	NH-A	brain
12	chr22:22030600-22047800	Weak transcription	HUVEC	blood vessel
13	chr22:22031400-22058400	Strong transcription	Fetal Intestine Small	intestine
14	chr22:22031600-22058400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr22:22032000-22052800	Strong transcription	Fetal Stomach	stomach
16	chr22:22032200-22048000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr22:22032200-22049400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr22:22032200-22056600	Strong transcription	Primary T cells from cord blood	blood
19	chr22:22032200-22065200	Strong transcription	Fetal Thymus	thymus
20	chr22:22032400-22052400	Strong transcription	Fetal Intestine Large	intestine
21	chr22:22033400-22065800	Strong transcription	Thymus	Thymus
22	chr22:22033800-22052800	Strong transcription	Duodenum Mucosa	Duodenum
23	chr22:22034200-22044400	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr22:22034200-22053000	Strong transcription	Lung	lung
25	chr22:22034400-22044400	Strong transcription	Stomach Smooth Muscle	stomach
26	chr22:22034400-22044600	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr22:22034400-22046400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr22:22034400-22053600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr22:22034400-22054600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr22:22034400-22055800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr22:22034600-22043600	Strong transcription	Brain Hippocampus Middle	brain
32	chr22:22034600-22044800	Strong transcription	Esophagus	oesophagus
33	chr22:22034600-22046600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr22:22034600-22052200	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr22:22034600-22053000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:22034600-22058600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr22:22034600-22059800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr22:22034600-22065400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr22:22035000-22043600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr22:22035000-22044200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr22:22035000-22045200	Strong transcription	Brain Germinal Matrix	brain
42	chr22:22035000-22046400	Strong transcription	Right Ventricle	heart
43	chr22:22035200-22043600	Strong transcription	Ovary	ovary
44	chr22:22035200-22044200	Strong transcription	Colonic Mucosa	Colon
45	chr22:22035200-22044400	Strong transcription	NHLF	lung
46	chr22:22035200-22044400	Strong transcription	Osteobl	bone
47	chr22:22035200-22045000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr22:22035200-22045000	Strong transcription	Fetal Brain Female	brain
49	chr22:22035200-22045000	Genic enhancers	Pancreas	Pancrea
50	chr22:22035200-22046600	Strong transcription	Adipose Nuclei	Adipose

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