Variant report

Variant	rs16989529
Chromosome Location	chr22:32220629-32220630
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	chr22:32218499..32222898-chr22:32223003..32225182,4	K562	blood:
2	22:32215168-32228866..22:32342898-32343477	K562	blood:

Variant related genes	Relation type
ENSG00000128245	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs1013703	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[MEX][hapmap];0.93[ASN][1000 genomes]
rs1076674	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap]
rs11089530	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11089531	0.91[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs11703040	1.00[CEU][hapmap];1.00[CHB][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]
rs11703079	1.00[CHB][hapmap]
rs11703102	1.00[CHB][hapmap]
rs11703104	1.00[CEU][hapmap];1.00[CHB][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]
rs11703232	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs11703275	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703854	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704129	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11704362	0.93[ASN][1000 genomes]
rs11704377	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705097	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705235	1.00[CHB][hapmap]
rs11705329	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[ASN][1000 genomes]
rs12157989	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12158002	1.00[CHB][hapmap]
rs12159673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12160120	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs131222	0.87[ASN][1000 genomes]
rs131224	0.87[ASN][1000 genomes]
rs131226	0.87[ASN][1000 genomes]
rs131228	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs131235	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs131237	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.87[ASN][1000 genomes]
rs131241	0.93[ASN][1000 genomes]
rs131243	0.86[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[ASN][1000 genomes]
rs131246	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs131251	0.93[ASN][1000 genomes]
rs131252	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs131254	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[ASN][1000 genomes]
rs140079	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.87[ASN][1000 genomes]
rs140083	0.93[ASN][1000 genomes]
rs140085	0.93[ASN][1000 genomes]
rs16989374	1.00[CHB][hapmap]
rs16989540	0.85[MEX][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes]
rs16989600	0.95[LWK][hapmap];0.85[MEX][hapmap];1.00[YRI][hapmap]
rs2040981	0.86[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2051583	0.85[MEX][hapmap]
rs2413058	0.82[CEU][hapmap];0.93[ASN][1000 genomes]
rs3804088	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap]
rs4603881	0.93[ASN][1000 genomes]
rs55645350	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55699591	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994417	1.00[CHB][hapmap]
rs5994424	0.87[ASN][1000 genomes]
rs5994435	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs5994436	0.91[CEU][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs5994446	0.81[MEX][hapmap]
rs5998066	1.00[CHB][hapmap]
rs5998068	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs5998079	1.00[CHB][hapmap]
rs5998080	1.00[CHB][hapmap]
rs5998085	1.00[CHB][hapmap]
rs5998093	0.87[ASN][1000 genomes]
rs5998095	0.87[ASN][1000 genomes]
rs5998098	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.87[ASN][1000 genomes]
rs5998099	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs5998103	0.87[ASN][1000 genomes]
rs5998113	0.93[ASN][1000 genomes]
rs5998114	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[ASN][1000 genomes]
rs5998116	0.93[ASN][1000 genomes]
rs5998123	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998133	0.86[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998134	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998144	0.95[LWK][hapmap];0.85[MEX][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs5998161	0.82[CEU][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs60136719	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60669705	0.87[ASN][1000 genomes]
rs61273982	0.93[ASN][1000 genomes]
rs62238893	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62238895	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62238904	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62238906	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62238934	0.88[AMR][1000 genomes]
rs62240515	0.93[ASN][1000 genomes]
rs62240684	0.87[ASN][1000 genomes]
rs62240686	0.87[ASN][1000 genomes]
rs62240687	0.87[ASN][1000 genomes]
rs7289259	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs7289535	0.81[ASN][1000 genomes]
rs7289702	0.91[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs7291898	1.00[ASN][1000 genomes]
rs73162139	0.93[ASN][1000 genomes]
rs740227	0.87[ASN][1000 genomes]
rs8136047	1.00[CHB][hapmap]
rs8141719	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs81946	0.87[ASN][1000 genomes]
rs9619224	1.00[CHB][hapmap]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs16989529	YWHAH	cis	cerebellum	SCAN
rs16989529	INPP5J	cis	parietal	SCAN
rs16989529	SELM	cis	cerebellum	SCAN
rs16989529	SEZ6L	cis	cerebellum	SCAN
rs16989529	ASPHD2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32172200-32254400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr22:32172800-32221000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr22:32187800-32222000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:32188600-32222600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr22:32188800-32259600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr22:32189800-32225200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr22:32192400-32242200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr22:32192400-32251000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr22:32192400-32266600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr22:32193000-32250600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr22:32193200-32226800	Strong transcription	Fetal Muscle Trunk	muscle
12	chr22:32193200-32228400	Strong transcription	Adipose Nuclei	Adipose
13	chr22:32193200-32246000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr22:32193200-32250600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr22:32196600-32224800	Weak transcription	Hela-S3	cervix
16	chr22:32197200-32251000	Strong transcription	Primary B cells from cord blood	blood
17	chr22:32204800-32225800	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr22:32205000-32228200	Strong transcription	Fetal Muscle Leg	muscle
19	chr22:32205000-32228600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr22:32205200-32225200	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr22:32205200-32226600	Strong transcription	Fetal Thymus	thymus
22	chr22:32205200-32257600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr22:32206400-32225600	Strong transcription	Left Ventricle	heart
24	chr22:32207200-32222000	Strong transcription	Rectal Smooth Muscle	rectum
25	chr22:32207800-32244000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr22:32209000-32245800	Strong transcription	Primary T cells from cord blood	blood
27	chr22:32209000-32254600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr22:32209200-32226600	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr22:32209400-32225600	Weak transcription	Stomach Mucosa	stomach
30	chr22:32209600-32222600	Strong transcription	Spleen	Spleen
31	chr22:32210000-32221400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr22:32210000-32222200	Strong transcription	Brain Germinal Matrix	brain
33	chr22:32210200-32225200	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr22:32210200-32226000	Strong transcription	Stomach Smooth Muscle	stomach
35	chr22:32210400-32225200	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr22:32210600-32224400	Strong transcription	GM12878-XiMat	blood
37	chr22:32210600-32251000	Strong transcription	Fetal Stomach	stomach
38	chr22:32210800-32222400	Strong transcription	Fetal Brain Female	brain
39	chr22:32211000-32220800	Strong transcription	Brain Anterior Caudate	brain
40	chr22:32211000-32221000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr22:32211000-32226200	Strong transcription	Thymus	Thymus
42	chr22:32211400-32226800	Strong transcription	Duodenum Mucosa	Duodenum
43	chr22:32212000-32225600	Strong transcription	Liver	Liver
44	chr22:32212000-32226800	Strong transcription	Fetal Intestine Small	intestine
45	chr22:32212000-32228200	Strong transcription	Fetal Intestine Large	intestine
46	chr22:32212400-32224000	Strong transcription	Fetal Lung	lung
47	chr22:32212400-32224000	Strong transcription	Lung	lung
48	chr22:32215200-32224000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr22:32215200-32224800	Weak transcription	A549	lung
50	chr22:32215400-32221400	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links