Variant report

Variant	rs185694
Chromosome Location	chr13:30885223-30885224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30883453..30886159-chr13:30906856..30910683,3	K562	blood:
2	chr13:30878723..30884002-chr13:30884417..30889770,9	K562	blood:
3	chr13:30884908..30886563-chr13:30886759..30889976,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102781	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs1099860	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12874839	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs169331	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1952607	0.90[CEU][hapmap];0.80[GIH][hapmap];0.80[MEX][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs200505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs200506	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs200511	0.81[EUR][1000 genomes]
rs200512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs200514	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs202079	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs202082	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs202083	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs202098	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs202099	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs202101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs595449	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs609919	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs613291	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[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]
rs628483	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs639234	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs653221	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs653251	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[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]
rs672233	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs846495	0.94[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]
rs846498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9315003	0.82[CEU][hapmap];0.81[EUR][1000 genomes]

Variant related diseases (count:1)

Disease	PMID	Source
Antineutrophil cytoplasmic antibody-associated vasculitis	22808956	GWAS catalog

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs185694	C13orf26	cis	cerebellum	SCAN
rs185694	SNORA27	cis	parietal	SCAN
rs185694	KATNAL1	cis	lymphoblastoid	seeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30882000-30889000	Weak transcription	Spleen	Spleen
2	chr13:30882200-30885800	Weak transcription	Lung	lung
3	chr13:30882200-30885800	Weak transcription	Thymus	Thymus
4	chr13:30882200-30886000	Weak transcription	Esophagus	oesophagus
5	chr13:30882200-30886600	Weak transcription	HSMMtube	muscle
6	chr13:30882200-30887400	Weak transcription	Primary T cells from cord blood	blood
7	chr13:30882200-30889200	Weak transcription	Left Ventricle	heart
8	chr13:30882200-30889600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr13:30882200-30892200	Weak transcription	Psoas Muscle	Psoas
10	chr13:30882200-30893800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:30882200-30896200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr13:30882200-30896200	Weak transcription	Ovary	ovary
13	chr13:30882200-30910800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr13:30882400-30885400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr13:30882400-30885400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr13:30882400-30885800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr13:30882400-30885800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:30882400-30885800	Weak transcription	Fetal Lung	lung
19	chr13:30882400-30886600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr13:30882400-30886600	Weak transcription	HSMM	muscle
21	chr13:30882400-30886800	Weak transcription	Liver	Liver
22	chr13:30882400-30887000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr13:30882400-30887000	Weak transcription	Brain Hippocampus Middle	brain
24	chr13:30882400-30887200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr13:30882400-30887200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr13:30882400-30887400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr13:30882400-30887400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr13:30882400-30887400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr13:30882400-30887600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr13:30882400-30892000	Weak transcription	Fetal Muscle Leg	muscle
31	chr13:30882400-30892200	Weak transcription	Right Atrium	heart
32	chr13:30882400-30894800	Weak transcription	Fetal Intestine Small	intestine
33	chr13:30882400-30905400	Weak transcription	Right Ventricle	heart
34	chr13:30882400-30905400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr13:30882600-30886400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr13:30882600-30886400	Weak transcription	NHEK	skin
37	chr13:30882600-30887000	Weak transcription	Adipose Nuclei	Adipose
38	chr13:30882800-30886000	Weak transcription	HUVEC	blood vessel
39	chr13:30882800-30886600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr13:30882800-30886800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr13:30882800-30887000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr13:30883000-30885400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr13:30883000-30885600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr13:30883000-30885800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr13:30883000-30885800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:30883000-30885800	Weak transcription	Fetal Thymus	thymus
47	chr13:30883000-30885800	Weak transcription	HMEC	breast
48	chr13:30883000-30885800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr13:30883000-30886000	Weak transcription	Dnd41	blood
50	chr13:30883000-30886200	Weak transcription	Colon Smooth Muscle	Colon

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