Variant report

Variant	rs5998172
Chromosome Location	chr22:32303780-32303781
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:31836635-31847259..22:32294405-32304383	Hela-S3	cervix:
2	22:32170492-32188129..22:32294405-32304383	Hela-S3	cervix:
3	22:32162110-32166713..22:32294405-32304383	H1-hESC	embryonic stem cell:	embryo
4	22:32102727-32109893..22:32294405-32304383	Hela-S3	cervix:
5	22:31864703-31891033..22:32294405-32304383	K562	blood:
6	22:32294405-32304383..22:33262063-33266567	Hela-S3	cervix:
7	chr22:32298281..32304022-chr22:32340378..32343394,6	K562	blood:
8	22:32294405-32304383..22:32868055-32872511	Hela-S3	cervix:
9	22:32053085-32061138..22:32294405-32304383	K562	blood:
10	22:32012966-32043914..22:32294405-32304383	Hela-S3	cervix:
11	chr22:32301068..32304083-chr22:32342454..32344895,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000199248	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000183530	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000100150	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1034419	0.85[ASW][hapmap];0.92[CEU][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11703587	0.89[JPT][hapmap]
rs11703818	0.88[AMR][1000 genomes]
rs16989609	0.85[ASW][hapmap];0.92[CEU][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28542543	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3213524	0.92[CEU][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3788436	0.92[CEU][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4820997	0.89[JPT][hapmap]
rs5753817	0.86[JPT][hapmap]
rs5994444	0.92[CEU][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5994446	1.00[ASW][hapmap];0.96[GIH][hapmap];0.87[LWK][hapmap]
rs5998151	0.91[AMR][1000 genomes]
rs5998153	0.92[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5998160	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5998170	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998171	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs60480657	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs5998172	HSCB	cis	parietal	SCAN
rs5998172	TTC28AS	cis	cerebellum	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32242400-32313400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr22:32244400-32305400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr22:32247600-32307400	Weak transcription	Hela-S3	cervix
4	chr22:32268000-32308000	Weak transcription	A549	lung
5	chr22:32273000-32304000	Weak transcription	HMEC	breast
6	chr22:32274000-32306600	Strong transcription	Primary B cells from peripheral blood	blood
7	chr22:32274400-32306600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr22:32276000-32315200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:32281000-32314800	Weak transcription	Right Atrium	heart
10	chr22:32288000-32307800	Weak transcription	NH-A	brain
11	chr22:32288200-32308800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr22:32291400-32308200	Strong transcription	Fetal Stomach	stomach
13	chr22:32292200-32307400	Weak transcription	Osteobl	bone
14	chr22:32293800-32308000	Weak transcription	Small Intestine	intestine
15	chr22:32294200-32308600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr22:32294400-32304600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr22:32294800-32307000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr22:32295000-32305600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr22:32295000-32307600	Weak transcription	NHDF-Ad	bronchial
20	chr22:32295800-32305600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr22:32295800-32314600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:32296000-32304200	Weak transcription	HepG2	liver
23	chr22:32297000-32304400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr22:32297000-32304400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr22:32297000-32304400	Strong transcription	Thymus	Thymus
26	chr22:32297000-32306800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr22:32297000-32307600	Strong transcription	Liver	Liver
28	chr22:32297200-32304200	Strong transcription	Left Ventricle	heart
29	chr22:32297200-32304600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:32297200-32304600	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr22:32297200-32306800	Strong transcription	Primary T cells from cord blood	blood
32	chr22:32297400-32304200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:32297400-32304400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr22:32297400-32304400	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr22:32297400-32304400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr22:32297400-32306600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr22:32297400-32306800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr22:32297400-32306800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr22:32297400-32307800	Strong transcription	Fetal Muscle Leg	muscle
40	chr22:32297400-32308200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr22:32297600-32304200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr22:32297600-32304200	Strong transcription	Brain Hippocampus Middle	brain
43	chr22:32297600-32304200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr22:32297800-32314800	Weak transcription	Brain Substantia Nigra	brain
45	chr22:32298000-32304200	Strong transcription	Fetal Intestine Large	intestine
46	chr22:32298000-32304400	Strong transcription	Adipose Nuclei	Adipose
47	chr22:32298000-32304400	Strong transcription	Spleen	Spleen
48	chr22:32298000-32311600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr22:32298200-32305000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr22:32298200-32306800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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