Variant report

Variant	rs131244
Chromosome Location	chr22:32126563-32126564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:32125450..32127899-chr22:32143963..32146889,2	K562	blood:
2	chr22:32125744..32127489-chr22:32144081..32146020,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183530	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11089527	0.84[EUR][1000 genomes]
rs12165432	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12167583	0.81[CEU][hapmap]
rs131225	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs131233	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs131245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131250	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131253	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138289	0.81[YRI][hapmap]
rs140078	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs140081	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2108108	0.95[CEU][hapmap];0.94[CHB][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs28528942	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3804087	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5994420	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs5994427	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994431	0.90[CEU][hapmap];0.94[CHB][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes]
rs5998072	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs5998086	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5998119	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5998121	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5998122	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5998126	0.89[EUR][1000 genomes]
rs5998131	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs5998136	0.90[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62238892	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7290856	0.90[CEU][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes]
rs760908	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs8141214	0.95[CEU][hapmap];0.94[CHB][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9619234	0.85[EUR][1000 genomes]
rs9621327	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060929	chr22:32102701-32176860	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers 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	44 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	chr22:32109600-32128200	Weak transcription	Pancreas	Pancrea
2	chr22:32112200-32142000	Weak transcription	Hela-S3	cervix
3	chr22:32112200-32145000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:32113200-32132600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:32113400-32130400	Weak transcription	NH-A	brain
6	chr22:32113400-32143800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr22:32113600-32134800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr22:32113600-32142000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr22:32114600-32129400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr22:32114800-32127200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr22:32114800-32127400	Strong transcription	Fetal Stomach	stomach
12	chr22:32115600-32126800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:32116000-32128400	Weak transcription	Small Intestine	intestine
14	chr22:32120000-32128200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr22:32120000-32130200	Weak transcription	HMEC	breast
16	chr22:32120000-32132400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr22:32120600-32134200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr22:32120800-32134400	Weak transcription	Colonic Mucosa	Colon
19	chr22:32121000-32134000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr22:32121000-32144000	Weak transcription	Fetal Kidney	kidney
21	chr22:32121200-32128400	Weak transcription	NHEK	skin
22	chr22:32121200-32130400	Weak transcription	NHDF-Ad	bronchial
23	chr22:32121200-32143600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr22:32121200-32143600	Weak transcription	Colon Smooth Muscle	Colon
25	chr22:32121400-32128000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr22:32121400-32128000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr22:32121400-32128200	Weak transcription	Gastric	stomach
28	chr22:32121400-32128200	Weak transcription	Osteobl	bone
29	chr22:32121400-32129200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr22:32121400-32130400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr22:32121400-32130400	Weak transcription	Thymus	Thymus
32	chr22:32121400-32130400	Weak transcription	NHLF	lung
33	chr22:32121400-32130600	Weak transcription	Aorta	Aorta
34	chr22:32121400-32132400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr22:32121400-32132400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr22:32121400-32133400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr22:32121400-32134200	Weak transcription	HUVEC	blood vessel
38	chr22:32121400-32134400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr22:32121400-32134400	Weak transcription	Esophagus	oesophagus
40	chr22:32121400-32134400	Weak transcription	Ovary	ovary
41	chr22:32121400-32134400	Weak transcription	A549	lung
42	chr22:32121400-32134600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr22:32121400-32143600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr22:32121600-32130200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr22:32121600-32130600	Weak transcription	Fetal Thymus	thymus
46	chr22:32121600-32134400	Weak transcription	Fetal Brain Female	brain
47	chr22:32121600-32144000	Weak transcription	Brain Anterior Caudate	brain
48	chr22:32121600-32144000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr22:32121600-32144400	Weak transcription	HSMMtube	muscle
50	chr22:32121600-32144600	Weak transcription	Fetal Brain Male	brain

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