Variant report

Variant	rs9619311
Chromosome Location	chr22:33196693-33196694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr22:33196570-33201496	IMR90	lung:	n/a	chr22:33200700-33200715 chr22:33200702-33200717
2	SPI1	chr22:33196618-33196761	K562	blood:	n/a	chr22:33196718-33196725 chr22:33196717-33196726 chr22:33196715-33196728 chr22:33196716-33196729

No.	Distal block	Cell Line	Cell type
1	chr22:33196677..33197366-chr22:33396432..33397359,2	MCF-7	breast:
2	chr22:32873449..32876014-chr22:33195387..33198121,2	MCF-7	breast:
3	22:32284948-32287956..22:33190123-33206921	K562	blood:
4	22:32846948-32860159..22:33190123-33206921	K562	blood:
5	chr22:33196424..33197160-chr22:33218794..33219602,2	MCF-7	breast:
6	chr22:33195652..33199571-chr22:33200330..33212129,15	MCF-7	breast:
7	chr22:32922025..32930472-chr22:33196157..33204507,15	MCF-7	breast:

Variant related genes	Relation type
TIMP3	TF binding region
ENSG00000197047	Chromatin interaction
ENSG00000227813	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000184459	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13057881	0.80[YRI][hapmap]
rs135025	0.84[MKK][hapmap]
rs135152	0.87[MEX][hapmap];0.83[YRI][hapmap]
rs2234921	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242072	0.90[YRI][hapmap]
rs242078	0.86[YRI][hapmap]
rs242082	1.00[YRI][hapmap]
rs5754283	0.86[JPT][hapmap]
rs5754290	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6518796	0.82[MEX][hapmap]
rs6518797	0.82[MEX][hapmap]
rs80268	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs8137129	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606994	0.81[YRI][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9619311	PISD	cis	cerebellum	SCAN
rs9619311	SLC5A1	cis	cerebellum	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33185200-33197200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:33191400-33197000	Weak transcription	Fetal Intestine Small	intestine
3	chr22:33193000-33196800	Weak transcription	Brain Angular Gyrus	brain
4	chr22:33193000-33197200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr22:33193200-33196800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr22:33193200-33196800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr22:33193200-33196800	Weak transcription	Fetal Lung	lung
8	chr22:33193200-33197000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr22:33193200-33197000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr22:33193200-33197000	Weak transcription	Liver	Liver
11	chr22:33193200-33197200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr22:33193200-33197200	Weak transcription	Brain Substantia Nigra	brain
13	chr22:33193200-33197200	Weak transcription	Esophagus	oesophagus
14	chr22:33193200-33197200	Weak transcription	Pancreas	Pancrea
15	chr22:33193400-33196800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr22:33193400-33196800	Weak transcription	HMEC	breast
17	chr22:33193400-33197000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr22:33193400-33197000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr22:33193400-33197200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr22:33193400-33197200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr22:33193600-33197000	Weak transcription	Brain Hippocampus Middle	brain
22	chr22:33193600-33197000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr22:33193800-33196800	Weak transcription	HepG2	liver
24	chr22:33195000-33197000	Enhancers	Placenta	Placenta
25	chr22:33195000-33197600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr22:33195400-33196800	Enhancers	HSMM	muscle
27	chr22:33195400-33197200	Enhancers	Fetal Muscle Leg	muscle
28	chr22:33195400-33197200	Enhancers	HSMMtube	muscle
29	chr22:33195600-33197000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr22:33195600-33197000	Enhancers	Fetal Stomach	stomach
31	chr22:33195600-33197200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr22:33195600-33197200	Enhancers	Lung	lung
33	chr22:33195600-33197200	Enhancers	Spleen	Spleen
34	chr22:33195800-33197400	Enhancers	Fetal Heart	heart
35	chr22:33196000-33196800	Enhancers	Colon Smooth Muscle	Colon
36	chr22:33196000-33196800	Enhancers	Osteobl	bone
37	chr22:33196000-33197200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr22:33196000-33197400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:33196200-33196800	Active TSS	Rectal Smooth Muscle	rectum
40	chr22:33196200-33196800	Enhancers	Right Atrium	heart
41	chr22:33196200-33197000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr22:33196200-33197200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr22:33196200-33197200	Enhancers	NHLF	lung
44	chr22:33196200-33197400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr22:33196200-33197400	Enhancers	Fetal Kidney	kidney
46	chr22:33196400-33197000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr22:33196600-33196800	Bivalent Enhancer	Colonic Mucosa	Colon
48	chr22:33196600-33196800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
49	chr22:33196600-33196800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr22:33196600-33196800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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