Variant report

Variant	rs5998115
Chromosome Location	chr22:32151704-32151705
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:32053085-32061138..22:32150875-32154575	GM12878	blood:
2	22:32150875-32154575..22:32228866-32235273	GM12878	blood:
3	22:32150875-32154575..22:32162110-32166713	GM12878	blood:
4	22:32150875-32154575..22:32915608-32918105	GM12878	blood:
5	22:32150875-32154575..22:32338420-32342898	K562	blood:
6	chr22:32148473..32152307-chr22:32339145..32342092,6	K562	blood:
7	22:32150875-32154575..22:32860159-32865649	GM12878	blood:
8	chr22:32149264..32152111-chr22:32339608..32342388,3	MCF-7	breast:
9	chr22:32147800..32152307-chr22:32338859..32342135,7	K562	blood:
10	22:32150875-32154575..22:32264718-32278135	GM12878	blood:

No data

Variant related genes	Relation type
ENSG00000252909	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000184459	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1013703	0.84[MEX][hapmap]
rs1076674	0.84[MEX][hapmap]
rs11089522	0.85[ASN][1000 genomes]
rs11702881	0.82[ASN][1000 genomes]
rs11703079	0.84[MEX][hapmap]
rs11703246	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11705112	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11705235	0.84[MEX][hapmap]
rs11705329	0.92[MEX][hapmap]
rs131221	0.91[ASN][1000 genomes]
rs131231	0.82[CHB][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.91[ASN][1000 genomes]
rs131237	0.84[MEX][hapmap]
rs131243	0.92[MEX][hapmap]
rs131246	0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs131252	0.81[AFR][1000 genomes]
rs131254	0.82[LWK][hapmap];0.92[MEX][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs140079	0.84[MEX][hapmap]
rs16989291	0.84[MEX][hapmap]
rs16989374	0.84[MEX][hapmap]
rs16989540	0.84[MEX][hapmap]
rs16989600	0.84[MEX][hapmap]
rs16989601	0.84[MEX][hapmap]
rs2051583	0.84[MEX][hapmap]
rs3804088	0.84[MEX][hapmap]
rs4603881	0.81[AFR][1000 genomes]
rs5998068	0.84[MEX][hapmap]
rs5998069	0.82[CHB][hapmap]
rs5998074	0.82[CHB][hapmap];0.86[GIH][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap]
rs5998098	0.84[MEX][hapmap]
rs5998114	0.92[MEX][hapmap];0.86[MKK][hapmap]
rs5998144	0.84[MEX][hapmap]
rs62238897	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs5998115	YWHAH	cis	cerebellum	SCAN
rs5998115	SEZ6L	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32150400-32154400	Weak transcription	Ovary	ovary
2	chr22:32150400-32161200	Weak transcription	Aorta	Aorta
3	chr22:32150400-32174200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:32150600-32151800	Flanking Active TSS	GM12878-XiMat	blood
5	chr22:32150600-32154400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:32150600-32172600	Weak transcription	Small Intestine	intestine
7	chr22:32150800-32154000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr22:32150800-32154200	Weak transcription	Gastric	stomach
9	chr22:32150800-32154200	Weak transcription	Left Ventricle	heart
10	chr22:32150800-32154200	Weak transcription	Right Ventricle	heart
11	chr22:32150800-32161000	Weak transcription	HSMMtube	muscle
12	chr22:32150800-32212800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:32151000-32151800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr22:32151000-32153200	Weak transcription	Esophagus	oesophagus
15	chr22:32151000-32153200	Weak transcription	Fetal Muscle Leg	muscle
16	chr22:32151000-32153800	Weak transcription	Colonic Mucosa	Colon
17	chr22:32151000-32154000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr22:32151000-32154200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr22:32151000-32154200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr22:32151000-32154200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr22:32151000-32154200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr22:32151000-32154200	Weak transcription	Brain Angular Gyrus	brain
23	chr22:32151000-32154200	Weak transcription	Lung	lung
24	chr22:32151000-32154200	Weak transcription	Thymus	Thymus
25	chr22:32151000-32154400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr22:32151000-32154400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr22:32151000-32154400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr22:32151000-32154400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr22:32151000-32154400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr22:32151000-32156400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr22:32151000-32157400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr22:32151000-32158800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:32151000-32159400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr22:32151000-32159400	Weak transcription	Osteobl	bone
35	chr22:32151000-32160800	Weak transcription	HSMM	muscle
36	chr22:32151000-32161000	Weak transcription	Fetal Kidney	kidney
37	chr22:32151000-32164400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr22:32151000-32174400	Weak transcription	Psoas Muscle	Psoas
39	chr22:32151000-32210800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr22:32151200-32151800	Enhancers	Fetal Intestine Large	intestine
41	chr22:32151200-32151800	Enhancers	HepG2	liver
42	chr22:32151200-32152200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr22:32151200-32152800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr22:32151200-32153000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr22:32151200-32153000	Weak transcription	Brain Germinal Matrix	brain
46	chr22:32151200-32153000	Weak transcription	Placenta	Placenta
47	chr22:32151200-32153200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr22:32151200-32153800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr22:32151200-32153800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr22:32151200-32153800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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