Variant report

Variant	rs16989638
Chromosome Location	chr22:31850607-31850608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31850201..31852811-chr22:31884349..31886700,2	MCF-7	breast:
2	chr22:31844458..31846488-chr22:31846838..31850631,3	K562	blood:
3	chr22:31847213..31849082-chr22:31849317..31851160,2	K562	blood:
4	chr22:31849740..31852347-chr22:31891078..31892965,2	K562	blood:

Variant related genes	Relation type
ENSG00000184708	Chromatin interaction
ENSG00000198089	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1018488	1.00[CEU][hapmap]
rs12160763	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs130089	0.86[ASN][1000 genomes]
rs16989274	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16989278	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16989279	0.86[ASN][1000 genomes]
rs16989334	1.00[CEU][hapmap]
rs16989336	1.00[CEU][hapmap]
rs16989519	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs16989617	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989620	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989623	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989635	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989682	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16989753	1.00[CEU][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16989760	1.00[CEU][hapmap];0.86[ASN][1000 genomes]
rs2180142	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2229875	1.00[JPT][hapmap]
rs55806621	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55853109	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55997441	0.88[EUR][1000 genomes]
rs56314242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56385611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753700	1.00[CEU][hapmap];0.86[ASN][1000 genomes]
rs60324934	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60907110	0.86[ASN][1000 genomes]
rs62236168	0.88[EUR][1000 genomes]
rs62236170	0.88[EUR][1000 genomes]
rs62236187	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62236215	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236223	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236224	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236225	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236226	0.81[EUR][1000 genomes]
rs62236230	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236231	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236232	0.86[ASN][1000 genomes]
rs62236257	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236258	0.86[ASN][1000 genomes]
rs62237437	0.88[EUR][1000 genomes]
rs62237446	0.88[EUR][1000 genomes]
rs62237760	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62237761	0.86[ASN][1000 genomes]
rs62237764	0.84[EUR][1000 genomes]
rs62237765	0.86[ASN][1000 genomes]
rs62237766	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62237767	0.86[ASN][1000 genomes]
rs62237768	0.86[ASN][1000 genomes]
rs62237769	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62237770	0.86[ASN][1000 genomes]
rs62237772	0.86[ASN][1000 genomes]
rs62237773	0.86[ASN][1000 genomes]
rs62237774	0.86[ASN][1000 genomes]
rs62237775	0.86[ASN][1000 genomes]
rs62239379	0.82[EUR][1000 genomes]
rs7286496	1.00[CEU][hapmap]
rs7293143	1.00[CEU][hapmap]
rs73158601	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs73160611	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73160614	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73160635	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73160655	0.86[ASN][1000 genomes]
rs738658	1.00[JPT][hapmap]
rs8142821	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs878654	0.88[EUR][1000 genomes]
rs9619215	1.00[CEU][hapmap]
rs9680589	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	esv1791934	chr22:31846234-31874194	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31797000-31884400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31797000-31884400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:31797200-31860600	Strong transcription	Fetal Stomach	stomach
4	chr22:31815000-31868200	Strong transcription	Dnd41	blood
5	chr22:31815000-31883400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr22:31822400-31859800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr22:31823600-31884600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr22:31829600-31852000	Strong transcription	Stomach Smooth Muscle	stomach
9	chr22:31832600-31867800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr22:31836200-31873600	Weak transcription	Stomach Mucosa	stomach
11	chr22:31836800-31853000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr22:31838200-31859000	Weak transcription	Hela-S3	cervix
13	chr22:31838600-31854400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:31840800-31857200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr22:31843000-31851800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr22:31844600-31854400	Weak transcription	Psoas Muscle	Psoas
17	chr22:31844600-31857800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr22:31845000-31854400	Weak transcription	NHLF	lung
19	chr22:31845800-31853000	Strong transcription	Fetal Muscle Leg	muscle
20	chr22:31845800-31860400	Strong transcription	Primary T cells from cord blood	blood
21	chr22:31846000-31853400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr22:31846000-31865800	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr22:31846400-31854400	Weak transcription	Aorta	Aorta
24	chr22:31846400-31872000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr22:31847400-31856200	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr22:31847600-31850800	Strong transcription	Rectal Smooth Muscle	rectum
27	chr22:31847600-31851200	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr22:31847600-31859800	Strong transcription	Placenta	Placenta
29	chr22:31847600-31860400	Strong transcription	Fetal Intestine Large	intestine
30	chr22:31847600-31881800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr22:31847800-31851200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr22:31847800-31852000	Strong transcription	Left Ventricle	heart
33	chr22:31847800-31852400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr22:31847800-31860400	Strong transcription	Primary B cells from cord blood	blood
35	chr22:31847800-31868200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr22:31848000-31865600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr22:31848000-31867400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr22:31848000-31868000	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr22:31848000-31868400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr22:31848200-31850800	Strong transcription	Brain Substantia Nigra	brain
41	chr22:31848200-31850800	Strong transcription	Fetal Brain Female	brain
42	chr22:31848200-31851400	Strong transcription	K562	blood
43	chr22:31848200-31851600	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr22:31848200-31853400	Strong transcription	Fetal Thymus	thymus
45	chr22:31848200-31853800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr22:31848200-31856200	Strong transcription	Primary hematopoietic stem cells	blood
47	chr22:31848200-31856200	Strong transcription	NH-A	brain
48	chr22:31848200-31860200	Strong transcription	Adipose Nuclei	Adipose
49	chr22:31848200-31860200	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr22:31848200-31860200	Strong transcription	HUVEC	blood vessel

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