Variant report

Variant	rs9609276
Chromosome Location	chr22:31797318-31797319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31686527..31689345-chr22:31795585..31798136,2	MCF-7	breast:
2	chr22:31739411..31743940-chr22:31792561..31797746,12	K562	blood:
3	chr22:31738670..31747056-chr22:31790500..31799012,36	MCF-7	breast:
4	chr22:31737798..31746418-chr22:31793074..31801662,34	MCF-7	breast:
5	chr22:31795756..31797975-chr6:82164220..82166358,2	MCF-7	breast:
6	chr22:31796576..31798824-chr22:32026967..32029510,2	K562	blood:

Variant related genes	Relation type
ENSG00000228839	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000213888	Chromatin interaction
ENSG00000100100	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1001599	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13054220	0.80[EUR][1000 genomes]
rs13057504	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2273249	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2273251	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2899164	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34545960	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4603880	0.84[EUR][1000 genomes]
rs5749265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5749267	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749268	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5749270	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753597	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753609	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5753610	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753612	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753613	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753615	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753621	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753628	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5753631	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5994394	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5997969	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs714909	0.84[EUR][1000 genomes]
rs7285619	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7287267	0.84[EUR][1000 genomes]
rs7293171	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs738657	0.80[EUR][1000 genomes]
rs8138596	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8139625	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8141150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606830	0.83[EUR][1000 genomes]
rs9606831	0.84[EUR][1000 genomes]
rs9606839	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9606843	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9609254	0.82[EUR][1000 genomes]
rs9609257	0.81[EUR][1000 genomes]
rs9609264	0.83[EUR][1000 genomes]
rs9609265	0.84[EUR][1000 genomes]
rs9609266	0.83[EUR][1000 genomes]
rs9609267	0.85[EUR][1000 genomes]
rs9609268	0.87[EUR][1000 genomes]
rs9609277	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609286	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9609276	SFI1	cis	Thyroid	GTEx
rs9609276	DRG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31796400-31797600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:31796400-31799000	Weak transcription	Aorta	Aorta
3	chr22:31796400-31803000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:31796600-31797600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr22:31796600-31798600	Weak transcription	Ovary	ovary
6	chr22:31796600-31799400	Weak transcription	Fetal Brain Male	brain
7	chr22:31796600-31821200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr22:31796600-31830000	Weak transcription	Stomach Mucosa	stomach
9	chr22:31796800-31797400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:31796800-31797400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr22:31796800-31797400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr22:31796800-31797400	Enhancers	Colon Smooth Muscle	Colon
13	chr22:31796800-31797400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr22:31796800-31797400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr22:31796800-31797400	Weak transcription	Gastric	stomach
16	chr22:31796800-31797400	Enhancers	Pancreas	Pancrea
17	chr22:31796800-31797600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr22:31796800-31797600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr22:31796800-31797600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr22:31796800-31797600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr22:31796800-31797600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr22:31796800-31797600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:31796800-31797600	Weak transcription	Fetal Intestine Large	intestine
24	chr22:31796800-31797600	Genic enhancers	Fetal Muscle Trunk	muscle
25	chr22:31796800-31797800	Weak transcription	Primary T cells from cord blood	blood
26	chr22:31796800-31797800	Enhancers	Esophagus	oesophagus
27	chr22:31796800-31797800	Enhancers	Left Ventricle	heart
28	chr22:31796800-31798200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr22:31796800-31798200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr22:31796800-31798200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr22:31796800-31798200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr22:31796800-31798600	Weak transcription	Brain Anterior Caudate	brain
33	chr22:31796800-31798600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr22:31796800-31798600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr22:31796800-31798600	Weak transcription	Fetal Lung	lung
36	chr22:31796800-31798600	Weak transcription	Lung	lung
37	chr22:31796800-31798600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr22:31796800-31798600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr22:31796800-31798600	Weak transcription	Thymus	Thymus
40	chr22:31796800-31798600	Weak transcription	Spleen	Spleen
41	chr22:31796800-31798600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr22:31796800-31798800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr22:31796800-31798800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr22:31796800-31798800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr22:31796800-31798800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr22:31796800-31799000	Weak transcription	Small Intestine	intestine
47	chr22:31796800-31799200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr22:31796800-31799600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr22:31796800-31802600	Weak transcription	Brain Substantia Nigra	brain
50	chr22:31796800-31803000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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