Variant report

Variant	rs761746
Chromosome Location	chr22:32025913-32025914
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	POLR2A	chr22:32025498-32027407	GM19099	blood:	n/a	n/a
2	GABPA	chr22:32025873-32027090	MCF-7	breast:	n/a	chr22:32026861-32026870
3	POLR2A	chr22:32024886-32027721	GM12892	blood:	n/a	n/a
4	POLR2A	chr22:32024978-32027408	GM12878	blood:	n/a	n/a
5	POLR2A	chr22:32025198-32027926	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr22:32025905-32027766	GM18526	blood:	n/a	n/a
7	POLR2A	chr22:32025252-32027257	K562	blood:	n/a	n/a
8	POLR2A	chr22:32025093-32027734	GM18505	blood:	n/a	n/a
9	POLR2A	chr22:32013628-32027741	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr22:32025861-32027268	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr22:32025007-32027403	MCF-7	breast:	n/a	n/a
12	POLR2A	chr22:32025556-32027270	GM18951	blood:	n/a	n/a
13	POLR2A	chr22:32025125-32025990	K562	blood:	n/a	n/a
14	MAZ	chr22:32025757-32027400	IMR90	lung:	n/a	chr22:32027239-32027254 chr22:32027241-32027250 chr22:32027242-32027249 chr22:32026861-32026871
15	POLR2A	chr22:32025898-32027386	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr22:32021836-32027312	GM12878	blood:	n/a	n/a
17	MAZ	chr22:32025460-32027295	K562	blood:	n/a	chr22:32027239-32027254 chr22:32027241-32027250 chr22:32027242-32027249 chr22:32026861-32026871
18	POLR2A	chr22:32025910-32025964	K562	blood:	n/a	n/a
19	MXI1	chr22:32025483-32027992	IMR90	lung:	n/a	chr22:32027897-32027912
20	POLR2A	chr22:32025742-32027623	GM12878	blood:	n/a	n/a
21	POLR2A	chr22:32025230-32025994	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr22:32025805-32027318	GM12878	blood:	n/a	n/a
23	POLR2A	chr22:32024647-32025987	A549	lung:	n/a	n/a
24	STAT5A	chr22:32025207-32026092	GM12878	blood:	n/a	n/a
25	POLR2A	chr22:32019390-32027366	GM12891	blood:	n/a	n/a
26	STAT5A	chr22:32025026-32027293	GM12878	blood:	n/a	n/a
27	SIN3AK20	chr22:32025865-32026134	K562	blood:	n/a	n/a
28	POLR2A	chr22:32024858-32026126	HepG2	liver:	n/a	n/a
29	POLR2A	chr22:32019734-32028474	PBDE	blood:	n/a	n/a
30	ELF1	chr22:32025806-32027779	GM12878	blood:	n/a	chr22:32026895-32026907 chr22:32026391-32026403
31	MAX	chr22:32025843-32027442	K562	blood:	n/a	chr22:32027239-32027254 chr22:32027241-32027250 chr22:32027242-32027249 chr22:32026861-32026871
32	POLR2A	chr22:32024546-32027695	GM12892	blood:	n/a	n/a
33	POLR2A	chr22:32023363-32027633	HepG2	liver:	n/a	n/a
34	POLR2A	chr22:32025875-32027004	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr22:32025559-32026040	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr22:32022799-32026868	GM12891	blood:	n/a	n/a
37	ELF1	chr22:32025877-32027105	GM12878	blood:	n/a	chr22:32026895-32026907 chr22:32026391-32026403

No.	Distal block	Cell Line	Cell type
1	22:32012966-32043914..22:32347255-32351014	K562	blood:
2	22:31936958-31958600..22:32012966-32043914	GM12878	blood:
3	chr22:32024471..32026480-chr22:32056771..32058290,2	MCF-7	breast:
4	chr22:31884997..31887735-chr22:32023066..32028730,7	MCF-7	breast:
5	22:32012966-32043914..22:32513817-32522138	K562	blood:
6	22:31829733-31836635..22:32012966-32043914	GM12878	blood:
7	22:32012966-32043914..22:32665993-32670527	K562	blood:
8	chr22:31884421..31887375-chr22:32024434..32026202,2	MCF-7	breast:
9	chr22:31975899..31977942-chr22:32024771..32027892,3	MCF-7	breast:
10	chr22:31971863..31974758-chr22:32025154..32029039,5	MCF-7	breast:
11	chr22:32023093..32026034-chr22:32340368..32341945,2	K562	blood:
12	22:31930706-31935473..22:32012966-32043914	GM12878	blood:
13	22:32012966-32043914..22:32529813-32538538	K562	blood:
14	chr22:32025758..32028730-chr22:32031717..32035857,4	K562	blood:
15	22:32012966-32043914..22:32846948-32860159	K562	blood:
16	chr22:32024493..32026910-chr22:32057985..32060151,2	K562	blood:
17	chr22:31968452..31970023-chr22:32025865..32027475,2	MCF-7	breast:
18	chr22:31978255..31985248-chr22:32021950..32028161,12	MCF-7	breast:
19	chr22:31883675..31887496-chr22:32025240..32029301,5	K562	blood:
20	chr22:32025067..32026955-chr22:32148287..32151224,2	K562	blood:
21	22:32012966-32043914..22:32360288-32405313	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRR14L-1	chr22:32025688-32025992	NONHSAT084910

Variant related genes	Relation type
PISD	TF binding region
ENSG00000224050	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000229169	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000241878	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1044085	0.85[JPT][hapmap]
rs12170867	0.86[JPT][hapmap]
rs12171042	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12627933	0.91[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];0.85[ASN][1000 genomes]
rs131233	0.86[YRI][hapmap]
rs131250	0.82[MKK][hapmap]
rs140078	0.89[MEX][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap]
rs140081	0.88[MEX][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap]
rs14034	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1543416	0.84[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];0.88[TSI][hapmap];0.82[YRI][hapmap]
rs2006771	0.91[LWK][hapmap];0.86[MKK][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs2092905	0.95[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap]
rs2108108	0.86[MKK][hapmap]
rs2236033	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.85[ASN][1000 genomes]
rs2295242	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs2295251	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2387	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs3804087	0.89[MEX][hapmap];0.87[MKK][hapmap];0.82[YRI][hapmap]
rs3818134	1.00[CEU][hapmap];0.82[GIH][hapmap];0.80[JPT][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap]
rs4820051	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs4820979	1.00[CEU][hapmap];0.80[GIH][hapmap];0.80[JPT][hapmap];0.94[MEX][hapmap]
rs4820980	1.00[CEU][hapmap];0.82[GIH][hapmap];0.80[JPT][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap]
rs4820982	1.00[CEU][hapmap]
rs4820983	0.84[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];0.88[TSI][hapmap];0.83[YRI][hapmap]
rs5749293	0.80[JPT][hapmap]
rs5749303	0.80[CHD][hapmap];0.86[JPT][hapmap]
rs5749304	0.82[CEU][hapmap]
rs5749306	1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap]
rs5753667	1.00[CEU][hapmap];0.80[GIH][hapmap];0.80[JPT][hapmap];0.94[MEX][hapmap]
rs5753681	0.80[JPT][hapmap]
rs5753686	0.84[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];0.88[TSI][hapmap];0.83[YRI][hapmap]
rs5753691	0.84[JPT][hapmap];0.83[MEX][hapmap]
rs5753714	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs5753732	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs5753733	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753734	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5994415	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs5994420	0.89[YRI][hapmap]
rs5994427	0.81[YRI][hapmap]
rs5998042	0.84[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];0.82[LWK][hapmap];0.88[TSI][hapmap];0.86[YRI][hapmap]
rs5998054	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.88[ASN][1000 genomes]
rs5998069	0.85[MKK][hapmap];0.86[YRI][hapmap]
rs5998086	0.89[MEX][hapmap];0.87[MKK][hapmap];0.89[YRI][hapmap]
rs7287937	0.93[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7289075	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7291918	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];0.85[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs738656	1.00[CEU][hapmap];0.80[GIH][hapmap];0.80[JPT][hapmap];0.94[MEX][hapmap]
rs738684	1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.87[ASN][1000 genomes]
rs738702	0.83[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs760908	0.92[MKK][hapmap];0.89[YRI][hapmap]
rs761747	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8141214	0.85[MKK][hapmap]
rs8461	0.83[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs9956	0.94[ASW][hapmap];0.95[CEU][hapmap];0.87[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];0.85[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.88[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][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	nsv829176	chr22:31998223-32029556	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2830290	chr22:32011225-32057964	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Intelligence	22449649	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs761746	PIK3IP1	cis	parietal	SCAN
rs761746	SFI1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32019600-32026000	Genic enhancers	Esophagus	oesophagus
2	chr22:32020800-32026000	Genic enhancers	Gastric	stomach
3	chr22:32020800-32026000	Enhancers	Stomach Mucosa	stomach
4	chr22:32022600-32026000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:32023000-32026400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr22:32023600-32026000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:32023600-32026000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr22:32024600-32026000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr22:32024800-32027000	Enhancers	Fetal Heart	heart
10	chr22:32025000-32027800	Enhancers	Fetal Brain Male	brain
11	chr22:32025200-32026000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr22:32025200-32026000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr22:32025200-32026000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr22:32025200-32026000	Genic enhancers	Liver	Liver
15	chr22:32025200-32026000	Enhancers	Brain Anterior Caudate	brain
16	chr22:32025400-32026000	Enhancers	Brain Angular Gyrus	brain
17	chr22:32025400-32026000	Enhancers	Fetal Lung	lung
18	chr22:32025400-32026000	Enhancers	Left Ventricle	heart
19	chr22:32025400-32026200	Flanking Active TSS	HSMM	muscle
20	chr22:32025400-32026400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr22:32025400-32026400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:32025600-32026000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:32025600-32026000	Genic enhancers	Primary monocytes fromperipheralblood	blood
24	chr22:32025600-32026000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr22:32025600-32026000	Enhancers	Fetal Kidney	kidney
26	chr22:32025600-32026000	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr22:32025600-32026000	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr22:32025600-32026000	Flanking Active TSS	A549	lung
29	chr22:32025600-32026000	Flanking Active TSS	NHDF-Ad	bronchial
30	chr22:32025600-32026000	Flanking Active TSS	NHLF	lung
31	chr22:32025600-32026200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr22:32025600-32026200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr22:32025600-32026200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr22:32025600-32026200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr22:32025600-32026200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr22:32025600-32026200	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr22:32025600-32026200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr22:32025600-32026200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr22:32025600-32026200	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr22:32025600-32026200	Flanking Active TSS	Thymus	Thymus
41	chr22:32025600-32026200	Flanking Active TSS	HMEC	breast
42	chr22:32025600-32026200	Flanking Active TSS	HUVEC	blood vessel
43	chr22:32025600-32026200	Flanking Active TSS	K562	blood
44	chr22:32025600-32026200	Flanking Active TSS	NH-A	brain
45	chr22:32025600-32026200	Flanking Active TSS	Osteobl	bone
46	chr22:32025600-32026400	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr22:32025600-32026400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr22:32025600-32026400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr22:32025600-32026400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr22:32025600-32026400	Flanking Active TSS	Duodenum Mucosa	Duodenum

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