Variant report

Variant	rs9609394
Chromosome Location	chr22:32354621-32354622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:32353937-32355783	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr22:32354070-32355186	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr22:32354544-32354784	HCT-116	colon:	n/a	n/a
4	POLR2A	chr22:32354408-32354813	GM12892	blood:	n/a	n/a
5	POLR2A	chr22:32354037-32354821	HepG2	liver:	n/a	n/a
6	POLR2A	chr22:32354541-32354985	HCT-116	colon:	n/a	n/a
7	POLR2A	chr22:32354443-32354789	K562	blood:	n/a	n/a
8	POLR2A	chr22:32354320-32355139	HL-60	blood:	n/a	n/a
9	POLR2A	chr22:32354614-32354991	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr22:32354386-32354899	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr22:32354537-32354924	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr22:32354038-32354987	GM12892	blood:	n/a	n/a
13	POLR2A	chr22:32354446-32354892	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr22:32353986-32356378	MCF-7	breast:	n/a	n/a
15	POLR2A	chr22:32354483-32354948	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr22:32351832-32356486	K562	blood:	n/a	n/a
17	POLR2A	chr22:32354561-32355266	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr22:32353853-32355417	K562	blood:	n/a	n/a
19	POLR2A	chr22:32354329-32354807	PANC-1	pancreas:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:32339237..32345444-chr22:32352616..32356758,7	K562	blood:
2	22:32162110-32166713..22:32352483-32354828	GM12878	blood:
3	chr22:32350878..32354651-chr22:32358565..32361250,3	K562	blood:
4	22:31836635-31847259..22:32352483-32354828	K562	blood:
5	22:32012966-32043914..22:32352483-32354828	GM12878	blood:
6	chr22:32353025..32354977-chr22:32357015..32359742,2	MCF-7	breast:
7	chr22:32217728..32219579-chr22:32352880..32355735,2	K562	blood:
8	22:32053085-32061138..22:32352483-32354828	GM12878	blood:

No data

Variant related genes	Relation type
ENSG00000227519	TF binding region
ENSG00000128245	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000227519	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000184708	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1049583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2246704	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2301415	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];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2853884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2853887	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]
rs2858750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2858752	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2858753	0.89[CHB][hapmap]
rs3747158	0.89[CHB][hapmap]
rs4820059	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs5998196	0.89[CHB][hapmap]
rs71806276	0.80[ASN][1000 genomes]
rs7290696	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap]
rs7291050	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap]
rs7364274	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs738181	0.88[CHB][hapmap]
rs8141011	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];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs933226	0.88[CHB][hapmap]
rs9609395	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9609397	1.00[YRI][hapmap]
rs9621371	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.80[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	nsv428046	chr22:32316302-32356963	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9609394	YWHAH	cis	brain	BrainEAC
rs9609394	YWHAH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32342400-32357600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:32343400-32355000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:32346600-32356400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr22:32346800-32354800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr22:32347200-32355000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr22:32348400-32354800	Strong transcription	Dnd41	blood
7	chr22:32348800-32355000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr22:32349200-32354800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr22:32349800-32354800	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr22:32349800-32355000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr22:32349800-32355000	Strong transcription	Fetal Intestine Large	intestine
12	chr22:32350200-32355000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr22:32350600-32354800	Strong transcription	Brain Germinal Matrix	brain
14	chr22:32350600-32355000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr22:32350600-32355000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:32350600-32355000	Strong transcription	Fetal Stomach	stomach
17	chr22:32350600-32355000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr22:32350800-32354800	Strong transcription	HMEC	breast
19	chr22:32350800-32355000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr22:32351000-32354800	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr22:32351000-32355000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr22:32351000-32355000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr22:32351200-32354800	Strong transcription	Osteobl	bone
24	chr22:32351200-32355000	Strong transcription	Fetal Muscle Leg	muscle
25	chr22:32351200-32366000	Weak transcription	Stomach Mucosa	stomach
26	chr22:32351400-32355600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr22:32351400-32366400	Weak transcription	Right Atrium	heart
28	chr22:32351600-32355000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr22:32351800-32354800	Strong transcription	Brain Hippocampus Middle	brain
30	chr22:32351800-32354800	Strong transcription	HSMM	muscle
31	chr22:32351800-32355000	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr22:32352000-32354800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr22:32352000-32354800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr22:32352000-32354800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr22:32352000-32354800	Strong transcription	HUVEC	blood vessel
36	chr22:32352000-32355000	Strong transcription	NH-A	brain
37	chr22:32352200-32354800	Strong transcription	Fetal Brain Male	brain
38	chr22:32352200-32355000	Strong transcription	Aorta	Aorta
39	chr22:32352200-32355000	Strong transcription	Left Ventricle	heart
40	chr22:32352400-32355000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr22:32352400-32355800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr22:32352600-32358600	Weak transcription	Fetal Heart	heart
43	chr22:32352800-32355000	Strong transcription	Fetal Thymus	thymus
44	chr22:32352800-32355000	Strong transcription	Thymus	Thymus
45	chr22:32353000-32354800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr22:32353000-32354800	Weak transcription	Spleen	Spleen
47	chr22:32353000-32357400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr22:32353000-32366000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr22:32353000-32366000	Weak transcription	Esophagus	oesophagus
50	chr22:32353000-32366000	Weak transcription	Gastric	stomach

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