Variant report

Variant	rs7364274
Chromosome Location	chr22:32340379-32340380
allele	A/G
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	MAX	chr22:32339697-32340379	MCF-7	breast:	n/a	chr22:32340069-32340076
2	MAX	chr22:32339771-32340875	SK-N-SH	brain:	n/a	chr22:32340069-32340076 chr22:32340395-32340405
3	POLR2A	chr22:32339784-32340886	GM12878	blood:	n/a	n/a
4	POLR2A	chr22:32339741-32341730	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr22:32339474-32343821	SK-N-SH	brain:	n/a	n/a
6	SP1	chr22:32339871-32340705	A549	lung:	n/a	chr22:32340052-32340064 chr22:32340036-32340045 chr22:32340035-32340047 chr22:32340036-32340046 chr22:32340053-32340062 chr22:32340037-32340046 chr22:32340035-32340047 chr22:32340395-32340409 chr22:32340037-32340046 chr22:32340388-32340402 chr22:32340052-32340064 chr22:32340394-32340406
7	HMGN3	chr22:32339953-32341446	K562	blood:	n/a	n/a
8	MYBL2	chr22:32339948-32340711	HepG2	liver:	n/a	n/a
9	MXI1	chr22:32339679-32342128	GM12878	blood:	n/a	n/a
10	IRF1	chr22:32339887-32340506	K562	blood:	n/a	chr22:32340050-32340064 chr22:32340035-32340049
11	MAX	chr22:32339770-32340649	Hela-S3	cervix:	n/a	chr22:32340069-32340076 chr22:32340395-32340405
12	E2F6	chr22:32339821-32341026	K562	blood:	n/a	chr22:32340612-32340621 chr22:32340295-32340304 chr22:32340352-32340361 chr22:32340620-32340630 chr22:32340416-32340425 chr22:32340445-32340454 chr22:32340205-32340214 chr22:32340107-32340124 chr22:32340350-32340359 chr22:32340110-32340121
13	POLR2A	chr22:32339465-32342192	Hela-S3	cervix:	n/a	n/a
14	ATF2	chr22:32340091-32340621	GM12878	blood:	n/a	chr22:32340348-32340362 chr22:32340350-32340361
15	E2F6	chr22:32339768-32341144	K562	blood:	n/a	chr22:32340612-32340621 chr22:32340295-32340304 chr22:32340352-32340361 chr22:32340620-32340630 chr22:32340416-32340425 chr22:32340445-32340454 chr22:32340205-32340214 chr22:32340107-32340124 chr22:32340350-32340359 chr22:32340110-32340121
16	POLR2A	chr22:32339598-32341842	HL-60	blood:	n/a	n/a
17	POLR2A	chr22:32339500-32342859	K562	blood:	n/a	n/a
18	MAX	chr22:32339810-32341082	K562	blood:	n/a	chr22:32340069-32340076 chr22:32340395-32340405
19	JUND	chr22:32339615-32340993	K562	blood:	n/a	chr22:32340351-32340360 chr22:32340932-32340941 chr22:32340021-32340030 chr22:32340928-32340937
20	POLR2A	chr22:32339704-32341105	MCF-7	breast:	n/a	n/a
21	JUND	chr22:32340022-32340754	H1-hESC	embryonic stem cell:	n/a	chr22:32340351-32340360
22	POLR2A	chr22:32339606-32345108	IMR90	lung:	n/a	n/a
23	CEBPB	chr22:32340199-32340487	H1-hESC	embryonic stem cell:	n/a	n/a
24	TCF7L2	chr22:32340083-32341016	HCT-116	colon:	n/a	n/a
25	ATF2	chr22:32340043-32340559	H1-hESC	embryonic stem cell:	n/a	chr22:32340348-32340362 chr22:32340350-32340361
26	ELF1	chr22:32339847-32341147	K562	blood:	n/a	chr22:32340034-32340046 chr22:32340619-32340628 chr22:32340624-32340636 chr22:32340978-32340991
27	TBL1XR1	chr22:32340180-32340689	K562	blood:	n/a	n/a
28	RAD21	chr22:32340375-32340696	K562	blood:	n/a	n/a
29	TEAD4	chr22:32340125-32340736	ECC-1	luminal epithelium:	n/a	n/a
30	JUND	chr22:32339505-32340826	SK-N-SH	brain:	n/a	chr22:32340351-32340360 chr22:32340021-32340030
31	NRF1	chr22:32340110-32340655	K562	blood:	n/a	chr22:32340441-32340455 chr22:32340608-32340622 chr22:32340444-32340453 chr22:32340296-32340305 chr22:32340294-32340305 chr22:32340611-32340622 chr22:32340524-32340533 chr22:32340294-32340305 chr22:32340294-32340308 chr22:32340613-32340622 chr22:32340291-32340305 chr22:32340205-32340214 chr22:32340611-32340625
32	MAZ	chr22:32339708-32341592	K562	blood:	n/a	chr22:32340069-32340076 chr22:32340395-32340405
33	MAX	chr22:32339730-32341134	MCF-7	breast:	n/a	chr22:32340069-32340076 chr22:32340395-32340405
34	POU2F2	chr22:32340374-32340744	GM12878	blood:	n/a	n/a
35	TEAD4	chr22:32340022-32340748	ECC-1	luminal epithelium:	n/a	n/a
36	MYC	chr22:32340321-32340900	MCF-7	breast:	n/a	chr22:32340395-32340405
37	CEBPB	chr22:32340235-32340470	HepG2	liver:	n/a	n/a
38	MEF2A	chr22:32339741-32340786	SK-N-SH	brain:	n/a	chr22:32340337-32340348 chr22:32340336-32340347 chr22:32340335-32340349 chr22:32340334-32340349 chr22:32340358-32340373 chr22:32340335-32340350 chr22:32340338-32340347
39	PML	chr22:32340379-32340846	K562	blood:	n/a	n/a
40	MAX	chr22:32339607-32341782	Hela-S3	cervix:	n/a	chr22:32340069-32340076 chr22:32340395-32340405
41	POLR2A	chr22:32340361-32340984	A549	lung:	n/a	n/a
42	POLR2A	chr22:32339690-32341711	GM15510	blood:	n/a	n/a
43	E2F6	chr22:32339724-32340580	H1-hESC	embryonic stem cell:	n/a	chr22:32340295-32340304 chr22:32340352-32340361 chr22:32340416-32340425 chr22:32340445-32340454 chr22:32340205-32340214 chr22:32340107-32340124 chr22:32340350-32340359 chr22:32340110-32340121
44	RCOR1	chr22:32339749-32340631	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr22:32339683-32342704	H1-neurons	neurons:	n/a	n/a
46	TEAD4	chr22:32340261-32340683	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr22:32339770-32340908	MCF10A-Er-Src	breast:	n/a	n/a
48	HDAC2	chr22:32339856-32340782	HepG2	liver:	n/a	chr22:32340613-32340622
49	PAX5	chr22:32340092-32341136	GM12892	blood:	n/a	chr22:32340612-32340621 chr22:32340477-32340486
50	POLR2A	chr22:32339453-32341900	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:32340332-32340382	NHBE	bronchial:	n/a
2	chr22:32340373-32340423	ECC-1	luminal epithelium:	n/a
3	chr22:32340332-32340382	HepG2	liver:	n/a
4	chr22:32340332-32340382	AG09309	skin:	n/a
5	chr22:32340355-32340405	BE2_C	brain:	n/a
6	chr22:32340373-32340423	CMK	blood:	n/a
7	chr22:32340332-32340382	HNPCEpiC	eye:	n/a
8	chr22:32340332-32340382	SK-N-SH	brain:	n/a
9	chr22:32340355-32340405	HRCEpiC	kidney:	n/a
10	chr22:32340355-32340405	Jurkat	blood:	n/a
11	chr22:32340332-32340382	AG09319	gingival:	n/a
12	chr22:32340373-32340423	HIPEpiC	eye:	n/a
13	chr22:32340373-32340423	NB4	blood:	n/a
14	chr22:32340332-32340382	RPTEC	kidney:	n/a
15	chr22:32340373-32340423	IMR90	lung:	fetal
16	chr22:32340332-32340382	HCPEpiC	choroid plexus:	n/a
17	chr22:32340329-32340379	HepG2	liver:	n/a
18	chr22:32340332-32340382	PANC-1	pancreas:	n/a
19	chr22:32340329-32340379	GM12892	blood:	n/a
20	chr22:32340329-32340379	AG04449	skin:	fetal
21	chr22:32340332-32340382	LNCaP	prostate:	n/a
22	chr22:32340329-32340379	BJ	skin:	n/a
23	chr22:32340332-32340382	ECC-1	luminal epithelium:	n/a
24	chr22:32340355-32340405	LNCaP	prostate:	n/a
25	chr22:32340373-32340423	BE2_C	brain:	n/a
26	chr22:32340329-32340379	U87	brain:	n/a
27	chr22:32340329-32340379	HCPEpiC	choroid plexus:	n/a
28	chr22:32340355-32340405	HepG2	liver:	n/a
29	chr22:32340355-32340405	HCPEpiC	choroid plexus:	n/a
30	chr22:32340373-32340423	HRCEpiC	kidney:	n/a
31	chr22:32340332-32340382	HIPEpiC	eye:	n/a
32	chr22:32340373-32340423	Hela-S3	cervix:	n/a
33	chr22:32340373-32340423	GM12892	blood:	n/a
34	chr22:32340373-32340423	HMEC	breast:	n/a
35	chr22:32340373-32340423	K562	blood:	n/a
36	chr22:32340332-32340382	HCT-116	colon:	n/a
37	chr22:32340373-32340423	HPAEpiC	pulmonary alveolar:	n/a
38	chr22:32340329-32340379	H1-hESC	embryonic stem cell:	embryo
39	chr22:32340332-32340382	HEEpiC	esophagus:	n/a
40	chr22:32340373-32340423	T-47D	breast:	n/a
41	chr22:32340355-32340405	NT2-D1	testis:	n/a
42	chr22:32340373-32340423	PrEC	prostate:	n/a
43	chr22:32340355-32340405	HCT-116	colon:	n/a
44	chr22:32340373-32340423	HEEpiC	esophagus:	n/a
45	chr22:32340329-32340379	IMR90	lung:	fetal
46	chr22:32340329-32340379	HAEpiC	amniotic membrane:	n/a
47	chr22:32340373-32340423	PANC-1	pancreas:	n/a
48	chr22:32340329-32340379	MCF10A-Er-Src	breast:	n/a
49	chr22:32340332-32340382	NH-A	brain:	n/a
50	chr22:32340329-32340379	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:32148473..32152307-chr22:32339145..32342092,6	K562	blood:
2	chr22:31740048..31742045-chr22:32339591..32341543,2	MCF-7	breast:
3	chr22:32291933..32294200-chr22:32339329..32341554,2	MCF-7	breast:
4	chr22:32287695..32295635-chr22:32339159..32346051,14	K562	blood:
5	chr22:32058182..32059714-chr22:32339404..32341859,2	MCF-7	breast:
6	chr22:32290403..32295434-chr22:32338835..32345403,11	K562	blood:
7	22:31829733-31836635..22:32338420-32342898	K562	blood:
8	chr22:32265561..32271092-chr22:32337255..32342585,8	MCF-7	breast:
9	chr22:32329388..32335571-chr22:32336708..32343906,17	K562	blood:
10	chr22:32263494..32270321-chr22:32339054..32343535,9	K562	blood:
11	chr22:32055976..32060358-chr22:32339389..32343294,9	K562	blood:
12	chr16:30661903..30662888-chr22:32339848..32340771,2	Hela-S3	cervix:
13	chr19:9938468..9939033-chr22:32339870..32340782,2	Hela-S3	cervix:
14	chr15:101458933..101459575-chr22:32340294..32340924,2	Hela-S3	cervix:
15	chr22:32287148..32289580-chr22:32339395..32341919,4	K562	blood:
16	chr22:32264603..32274220-chr22:32339477..32348693,21	K562	blood:
17	chr22:32333714..32338666-chr22:32338808..32341895,4	MCF-7	breast:
18	chr22:32148601..32151339-chr22:32339160..32341973,3	MCF-7	breast:
19	chr22:31884354..31887535-chr22:32340375..32343416,3	MCF-7	breast:
20	22:31936958-31958600..22:32338420-32342898	K562	blood:
21	chr22:32057033..32060064-chr22:32338919..32341534,3	MCF-7	breast:
22	chr22:32147800..32152307-chr22:32338859..32342135,7	K562	blood:
23	chr22:32267945..32270075-chr22:32339613..32341959,2	MCF-7	breast:
24	chr22:32054689..32061174-chr22:32339137..32344183,9	K562	blood:
25	chr22:32149264..32152111-chr22:32339608..32342388,3	MCF-7	breast:
26	chr22:32023093..32026034-chr22:32340368..32341945,2	K562	blood:
27	22:32284948-32287956..22:32338420-32342898	Hela-S3	cervix:
28	22:32150875-32154575..22:32338420-32342898	K562	blood:

Variant related genes	Relation type
YWHAH	TF binding region
YWHAH	CpG island
ENSG00000184708	Chromatin interaction
ENSG00000154237	Chromatin interaction
ENSG00000227813	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000259583	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000242251	Chromatin interaction
ENSG00000127452	Chromatin interaction
ENSG00000198258	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000128254	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1049583	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12168840	1.00[ASW][hapmap];0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap]
rs2246704	0.88[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs2301415	1.00[ASW][hapmap];0.95[CEU][hapmap];0.88[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2853884	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2853887	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2858750	1.00[ASW][hapmap];0.95[CEU][hapmap];0.88[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[MKK][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2858752	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4820059	0.87[ASW][hapmap];0.88[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.98[MKK][hapmap]
rs7290696	0.90[CEU][hapmap];1.00[LWK][hapmap]
rs7291050	0.90[CEU][hapmap];1.00[LWK][hapmap]
rs738181	1.00[LWK][hapmap]
rs8141011	1.00[ASW][hapmap];0.95[CEU][hapmap];0.88[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9609394	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9609395	0.83[AMR][1000 genomes]
rs9621371	0.90[CEU][hapmap];1.00[LWK][hapmap]

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	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
2	esv3443461	chr22:32339402-32341825	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7364274	CHEK2	cis	cerebellum	SCAN
rs7364274	CCDC117	cis	cerebellum	SCAN
rs7364274	RFPL1	cis	cerebellum	SCAN
rs7364274	C22orf28	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32339400-32341600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr22:32339600-32340400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr22:32339600-32340600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr22:32339600-32341200	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr22:32339600-32341200	Active TSS	HSMMtube	muscle
6	chr22:32339600-32341600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr22:32339600-32341600	Active TSS	Fetal Kidney	kidney
8	chr22:32339600-32342000	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr22:32339600-32342400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr22:32339600-32342400	Active TSS	Brain Angular Gyrus	brain
11	chr22:32339600-32342600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr22:32339600-32342800	Active TSS	Psoas Muscle	Psoas
13	chr22:32339600-32343200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr22:32339600-32343600	Active TSS	Aorta	Aorta
15	chr22:32339600-32343600	Active TSS	Right Atrium	heart
16	chr22:32339800-32341200	Active TSS	Placenta Amnion	Placenta Amnion
17	chr22:32339800-32341400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:32339800-32341400	Active TSS	Liver	Liver
19	chr22:32339800-32341400	Active TSS	Brain Substantia Nigra	brain
20	chr22:32339800-32341400	Active TSS	Thymus	Thymus
21	chr22:32339800-32341400	Active TSS	A549	lung
22	chr22:32339800-32341600	Active TSS	Colon Smooth Muscle	Colon
23	chr22:32339800-32341800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:32339800-32341800	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr22:32339800-32341800	Active TSS	Small Intestine	intestine
26	chr22:32339800-32342000	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr22:32339800-32342000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr22:32339800-32342000	Active TSS	Left Ventricle	heart
29	chr22:32339800-32342200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr22:32339800-32342200	Active TSS	Ovary	ovary
31	chr22:32339800-32342600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr22:32339800-32342600	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr22:32339800-32343400	Active TSS	Lung	lung
34	chr22:32340000-32340600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr22:32340000-32341000	Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr22:32340000-32341000	Active TSS	Primary T cells fromperipheralblood	blood
37	chr22:32340000-32341000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr22:32340000-32341200	Active TSS	Primary monocytes fromperipheralblood	blood
39	chr22:32340000-32341200	Active TSS	Primary B cells from peripheral blood	blood
40	chr22:32340000-32341200	Active TSS	Primary T cells from cord blood	blood
41	chr22:32340000-32341200	Active TSS	Primary hematopoietic stem cells	blood
42	chr22:32340000-32341200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr22:32340000-32341200	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr22:32340000-32341200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr22:32340000-32341200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr22:32340000-32341200	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr22:32340000-32341200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr22:32340000-32341200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr22:32340000-32341200	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr22:32340000-32341200	Active TSS	Adipose Nuclei	Adipose

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