Variant report

Variant	rs17480137
Chromosome Location	chr22:28279688-28279689
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:28278686..28280659-chr22:28281964..28283752,2	K562	blood:
2	chr22:28277423..28279775-chr22:28284286..28285949,2	MCF-7	breast:
3	chr22:28278788..28281432-chr22:28313283..28315949,2	MCF-7	breast:
4	chr22:28279056..28281403-chr22:28286781..28288906,2	K562	blood:

Variant related genes	Relation type
ENSG00000180957	Chromatin interaction
ENSG00000235954	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1000112	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10483139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10483141	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[AFR][1000 genomes]
rs12167128	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12170161	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs135638	1.00[AFR][1000 genomes]
rs138676	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs138679	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16985690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17389267	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17477193	1.00[ASW][hapmap]
rs17480313	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17480369	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17480565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17480971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17481471	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17483998	1.00[AFR][1000 genomes]
rs34844050	1.00[ASN][1000 genomes]
rs35386208	1.00[ASN][1000 genomes]
rs35633908	1.00[ASN][1000 genomes]
rs7286237	1.00[ASN][1000 genomes]
rs7286795	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7290640	1.00[ASN][1000 genomes]
rs8135697	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs8141993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926467	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv588878	chr22:28248840-28314113	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 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	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:28254000-28279800	Weak transcription	Spleen	Spleen
3	chr22:28256000-28279800	Weak transcription	Colonic Mucosa	Colon
4	chr22:28259200-28279800	Weak transcription	Esophagus	oesophagus
5	chr22:28263800-28279800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr22:28266800-28279800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr22:28268000-28279800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr22:28268200-28279800	Weak transcription	Pancreas	Pancrea
9	chr22:28268600-28279800	Enhancers	Rectal Smooth Muscle	rectum
10	chr22:28269800-28279800	Weak transcription	Hela-S3	cervix
11	chr22:28270000-28279800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr22:28270000-28283200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr22:28270400-28281200	Weak transcription	K562	blood
14	chr22:28273200-28284800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr22:28273200-28287000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr22:28273400-28279800	Enhancers	Liver	Liver
17	chr22:28273800-28279800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr22:28273800-28279800	Weak transcription	Thymus	Thymus
19	chr22:28273800-28283800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr22:28274000-28279800	Weak transcription	Right Ventricle	heart
21	chr22:28274000-28284200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr22:28274200-28279800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr22:28275400-28279800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr22:28275400-28279800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr22:28276000-28279800	Enhancers	Brain Substantia Nigra	brain
26	chr22:28276000-28279800	Enhancers	Fetal Heart	heart
27	chr22:28276000-28283400	Enhancers	Colon Smooth Muscle	Colon
28	chr22:28276600-28279800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr22:28277000-28279800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:28277000-28280000	Enhancers	Fetal Lung	lung
31	chr22:28277200-28291000	Strong transcription	GM12878-XiMat	blood
32	chr22:28277200-28308600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr22:28277400-28279800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr22:28277400-28279800	Weak transcription	A549	lung
35	chr22:28277400-28300600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr22:28277600-28279800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:28277600-28279800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr22:28277600-28279800	Enhancers	Stomach Smooth Muscle	stomach
39	chr22:28277600-28280200	Enhancers	Brain Hippocampus Middle	brain
40	chr22:28277600-28281800	Strong transcription	HSMM	muscle
41	chr22:28277600-28281800	Strong transcription	Osteobl	bone
42	chr22:28277600-28282200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr22:28277600-28284400	Weak transcription	Stomach Mucosa	stomach
44	chr22:28277800-28279800	Enhancers	Brain Anterior Caudate	brain
45	chr22:28277800-28279800	Weak transcription	Left Ventricle	heart
46	chr22:28277800-28280400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr22:28277800-28282000	Strong transcription	NHEK	skin
48	chr22:28277800-28282200	Weak transcription	Fetal Brain Male	brain
49	chr22:28277800-28283200	Weak transcription	Psoas Muscle	Psoas
50	chr22:28277800-28308400	Strong transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links