Variant report

Variant	rs10896304
Chromosome Location	chr11:67981714-67981715
allele	G/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	chr11:67980883-67981951	A549	lung:	n/a	n/a
2	POLR2A	chr11:67980772-67981899	A549	lung:	n/a	n/a
3	TAF1	chr11:67980909-67981833	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr11:67979924-67982679	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:67980881-67982164	GM12892	blood:	n/a	n/a
6	ZBTB7A	chr11:67980569-67982120	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr11:67980878-67981742	HCT-116	colon:	n/a	n/a
8	MAX	chr11:67979848-67982135	ECC-1	luminal epithelium:	n/a	chr11:67981617-67981627
9	TAF1	chr11:67980960-67981847	K562	blood:	n/a	n/a
10	MAX	chr11:67980930-67982146	ECC-1	luminal epithelium:	n/a	chr11:67981617-67981627
11	MAX	chr11:67980570-67981921	H1-hESC	embryonic stem cell:	n/a	chr11:67981617-67981627
12	POLR2A	chr11:67980938-67982067	HepG2	liver:	n/a	n/a
13	MAX	chr11:67980606-67981975	A549	lung:	n/a	chr11:67981617-67981627
14	TAF1	chr11:67980568-67981835	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr11:67980606-67981722	IMR90	lung:	n/a	n/a
16	POLR2A	chr11:67981192-67981743	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:67981069-67983102	SK-N-MC	brain:	n/a	n/a
18	ZBTB7A	chr11:67980536-67982198	ECC-1	luminal epithelium:	n/a	n/a
19	SP1	chr11:67981012-67981718	A549	lung:	n/a	chr11:67981599-67981612 chr11:67981615-67981624
20	REST	chr11:67981012-67981823	A549	lung:	n/a	chr11:67981523-67981532 chr11:67981526-67981539 chr11:67981523-67981536 chr11:67981220-67981233 chr11:67981523-67981543
21	POLR2A	chr11:67980910-67982144	H1-hESC	embryonic stem cell:	n/a	n/a
22	SP1	chr11:67981045-67981809	A549	lung:	n/a	chr11:67981599-67981612 chr11:67981615-67981624
23	MXI1	chr11:67979340-67982501	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr11:67980483-67982661	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:67980468-67982173	H1-neurons	neurons:	n/a	n/a
26	E2F6	chr11:67981621-67981799	K562	blood:	n/a	chr11:67981776-67981790
27	MAX	chr11:67979786-67982337	A549	lung:	n/a	chr11:67981617-67981627
28	STAT5A	chr11:67980965-67981733	GM12878	blood:	n/a	chr11:67981617-67981629
29	POLR2A	chr11:67980911-67981817	GM12878	blood:	n/a	n/a
30	CHD1	chr11:67981092-67981891	H1-hESC	embryonic stem cell:	n/a	chr11:67981211-67981221
31	REST	chr11:67980962-67981921	PANC-1	pancreas:	n/a	chr11:67981523-67981532 chr11:67981526-67981539 chr11:67981523-67981536 chr11:67981220-67981233 chr11:67981523-67981543
32	ELF1	chr11:67980938-67982152	GM12878	blood:	n/a	chr11:67981083-67981092
33	MYBL2	chr11:67981063-67981769	HepG2	liver:	n/a	n/a
34	CHD2	chr11:67980602-67981794	H1-hESC	embryonic stem cell:	n/a	chr11:67981211-67981221
35	POLR2A	chr11:67980226-67981792	GM19099	blood:	n/a	n/a
36	BCLAF1	chr11:67980945-67981728	GM12878	blood:	n/a	chr11:67981224-67981237 chr11:67981508-67981521 chr11:67981230-67981239 chr11:67981060-67981073 chr11:67981622-67981635 chr11:67981225-67981238 chr11:67981083-67981096 chr11:67981082-67981091 chr11:67981079-67981092
37	POLR2A	chr11:67980895-67982295	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr11:67980908-67981768	HL-60	blood:	n/a	n/a
39	POLR2A	chr11:67980063-67981736	GM15510	blood:	n/a	n/a
40	POLR2A	chr11:67981153-67981882	U87	brain:	n/a	n/a
41	POLR2A	chr11:67980551-67982855	MCF-7	breast:	n/a	n/a
42	YY1	chr11:67980997-67981821	SK-N-SH	brain:	n/a	chr11:67981080-67981091 chr11:67981094-67981103 chr11:67981083-67981092 chr11:67981620-67981631 chr11:67981065-67981076
43	POLR2A	chr11:67980200-67981735	GM18951	blood:	n/a	n/a
44	HEY1	chr11:67980908-67981783	HepG2	liver:	n/a	chr11:67981079-67981094 chr11:67981064-67981079 chr11:67981619-67981634 chr11:67981226-67981241 chr11:67981397-67981412 chr11:67981509-67981524 chr11:67981185-67981200
45	MAX	chr11:67979768-67981933	HCT-116	colon:	n/a	chr11:67981617-67981627
46	MEF2A	chr11:67981038-67981759	SK-N-SH	brain:	n/a	n/a
47	YY1	chr11:67980462-67982032	SK-N-SH	brain:	n/a	chr11:67980752-67980771 chr11:67980577-67980591 chr11:67980764-67980773 chr11:67980650-67980661 chr11:67980747-67980769 chr11:67980759-67980769 chr11:67980760-67980768 chr11:67981080-67981091 chr11:67980643-67980657 chr11:67980758-67980766 chr11:67981094-67981103 chr11:67980764-67980778 chr11:67980740-67980750 chr11:67981083-67981092 chr11:67981620-67981631 chr11:67981065-67981076
48	POLR2A	chr11:67980713-67982180	MCF-7	breast:	n/a	n/a
49	CEBPD	chr11:67981193-67981736	HepG2	liver:	n/a	n/a
50	SIN3AK20	chr11:67979826-67981745	PANC-1	pancreas:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67981677-67981727	AG09319	gingival:	n/a
2	chr11:67981677-67981727	GM12878	blood:	n/a
3	chr11:67981677-67981727	Jurkat	blood:	n/a
4	chr11:67981677-67981727	SK-N-SH	brain:	n/a
5	chr11:67981677-67981727	NT2-D1	testis:	n/a
6	chr11:67981677-67981727	A549	lung:	n/a
7	chr11:67981677-67981727	HL-60	blood:	n/a
8	chr11:67981677-67981727	Caco-2	colon:	n/a
9	chr11:67981677-67981727	ProgFib	skin:	n/a
10	chr11:67981677-67981727	NHBE	bronchial:	n/a
11	chr11:67981677-67981727	SK-N-MC	brain:	n/a
12	chr11:67981677-67981727	MCF10A-Er-Src	breast:	n/a
13	chr11:67981677-67981727	HEEpiC	esophagus:	n/a
14	chr11:67981677-67981727	Hela-S3	cervix:	n/a
15	chr11:67981677-67981727	AG04450	lung:	fetal
16	chr11:67981677-67981727	AG09309	skin:	n/a
17	chr11:67981677-67981727	ovcar-3	ovarian:	n/a
18	chr11:67981677-67981727	AoSMC	blood vessel:	n/a
19	chr11:67981677-67981727	H1-hESC	embryonic stem cell:	embryo
20	chr11:67981677-67981727	K562	blood:	n/a
21	chr11:67981677-67981727	HCT-116	colon:	n/a
22	chr11:67981677-67981727	SAEC	small airway:	n/a
23	chr11:67981677-67981727	SK-N-SH_RA	brain:	n/a
24	chr11:67981677-67981727	ECC-1	luminal epithelium:	n/a
25	chr11:67981677-67981727	HCF	heart:	n/a
26	chr11:67981677-67981727	SKMC	muscle:	n/a
27	chr11:67981677-67981727	HMEC	breast:	n/a
28	chr11:67981677-67981727	NH-A	brain:	n/a
29	chr11:67981677-67981727	BE2_C	brain:	n/a
30	chr11:67981677-67981727	GM06990	blood:	n/a
31	chr11:67981677-67981727	PrEC	prostate:	n/a
32	chr11:67981677-67981727	Hepatocyte	liver:	n/a
33	chr11:67981677-67981727	GM12891	blood:	n/a
34	chr11:67981677-67981727	HCPEpiC	choroid plexus:	n/a
35	chr11:67981677-67981727	HAEpiC	amniotic membrane:	n/a
36	chr11:67981677-67981727	HRCEpiC	kidney:	n/a
37	chr11:67981677-67981727	PFSK-1	brain:	n/a
38	chr11:67981677-67981727	LNCaP	prostate:	n/a
39	chr11:67981677-67981727	NB4	blood:	n/a
40	chr11:67981677-67981727	HIPEpiC	eye:	n/a
41	chr11:67981677-67981727	RPTEC	kidney:	n/a
42	chr11:67981677-67981727	NHDF-neo	bronchial:	n/a
43	chr11:67981677-67981727	HepG2	liver:	n/a
44	chr11:67981677-67981727	MCF-7	breast:	n/a
45	chr11:67981677-67981727	HRPEpiC	eye:	n/a
46	chr11:67981677-67981727	U87	brain:	n/a
47	chr11:67981677-67981727	AG04449	skin:	fetal
48	chr11:67981677-67981727	BJ	skin:	n/a
49	chr11:67981677-67981727	HUVEC	blood vessel:	n/a
50	chr11:67981677-67981727	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr11:67981374..67984276-chr11:67993824..67997585,3	MCF-7	breast:
2	chr11:67801362..67804021-chr11:67981642..67984097,2	K562	blood:
3	chr11:67770129..67772999-chr11:67979313..67982279,4	K562	blood:
4	chr11:67809744..67812462-chr11:67979811..67982598,3	K562	blood:
5	chr11:67785418..67788114-chr11:67980159..67983027,2	MCF-7	breast:
6	chr11:67978542..67982571-chr11:68037492..68040348,5	K562	blood:
7	chr11:67981478..67983630-chr11:68294229..68297212,2	MCF-7	breast:
8	chr11:67945273..67947340-chr11:67980771..67983104,2	MCF-7	breast:
9	chr11:67980044..67982287-chr11:68607836..68609854,2	MCF-7	breast:
10	chr11:67981068..67981912-chr18:21166361..21167014,2	NB4	blood:
11	chr11:67981469..67982980-chr11:68082759..68084542,2	MCF-7	breast:
12	chr11:67887644..67890253-chr11:67979136..67982167,3	K562	blood:
13	chr11:67769721..67772110-chr11:67979489..67981755,3	MCF-7	breast:
14	chr11:67832726..67834316-chr11:67980375..67982072,2	MCF-7	breast:
15	chr11:67808301..67812245-chr11:67979811..67982318,4	K562	blood:
16	chr11:67797762..67803553-chr11:67979125..67981829,6	MCF-7	breast:
17	chr11:67887483..67890032-chr11:67980873..67983925,4	MCF-7	breast:
18	chr11:67979628..67982546-chr11:68226210..68228969,2	K562	blood:
19	chr11:67887256..67890230-chr11:67980200..67982109,4	MCF-7	breast:
20	chr11:67886377..67890473-chr11:67979925..67982167,7	K562	blood:
21	chr11:67981475..67983981-chr11:68591972..68593739,2	MCF-7	breast:
22	chr11:67979686..67982618-chr11:68037075..68041127,8	K562	blood:
23	chr11:67981444..67983099-chr11:68021032..68023936,2	K562	blood:
24	chr11:67980249..67984222-chr11:68078427..68081768,4	MCF-7	breast:
25	chr11:67981308..67984011-chr11:68022436..68026046,3	K562	blood:
26	chr11:67978022..67983652-chr11:68035577..68041245,11	MCF-7	breast:
27	chr11:67980631..67982676-chr11:68038170..68040198,2	MCF-7	breast:
28	chr11:67803003..67807692-chr11:67979461..67982180,5	MCF-7	breast:
29	chr11:67779784..67784526-chr11:67980026..67983056,5	MCF-7	breast:
30	chr11:67795954..67799796-chr11:67979267..67982361,5	MCF-7	breast:
31	chr11:67978974..67982754-chr11:68079128..68084604,6	K562	blood:
32	chr11:67803608..67807840-chr11:67979633..67982182,3	K562	blood:
33	chr11:67810552..67812245-chr11:67980611..67983549,2	MCF-7	breast:
34	chr11:67849310..67851395-chr11:67980101..67982458,2	MCF-7	breast:
35	chr11:67787958..67790078-chr11:67980039..67982910,2	MCF-7	breast:

Variant related genes	Relation type
SUV420H1	TF binding region
SUV420H1	CpG island
ENSG00000110057	Chromatin interaction
ENSG00000255306	Chromatin interaction
ENSG00000141458	Chromatin interaction
ENSG00000110066	Chromatin interaction
ENSG00000110090	Chromatin interaction
ENSG00000110719	Chromatin interaction
ENSG00000110721	Chromatin interaction
ENSG00000162337	Chromatin interaction
ENSG00000110717	Chromatin interaction
ENSG00000110075	Chromatin interaction
ENSG00000171067	Chromatin interaction
ENSG00000006534	Chromatin interaction
ENSG00000266737	Chromatin interaction
ENSG00000255236	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10896298	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10896301	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10896303	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896305	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12225316	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1894204	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2011157	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2054865	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34236202	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34493482	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4345973	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4930228	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4930229	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4930230	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4930561	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4930563	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4930564	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61890513	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7950452	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	esv3393321	chr11:67979401-67982249	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	esv3329625	chr11:67979451-67982324	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10896304	SUV420H1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67978800-67981800	Active TSS	Colonic Mucosa	Colon
2	chr11:67978800-67982000	Active TSS	Fetal Intestine Large	intestine
3	chr11:67978800-67982200	Active TSS	Fetal Kidney	kidney
4	chr11:67979000-67982000	Active TSS	HSMMtube	muscle
5	chr11:67979200-67981800	Active TSS	Pancreas	Pancrea
6	chr11:67979200-67982000	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr11:67979200-67982000	Active TSS	Gastric	stomach
8	chr11:67979200-67982200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:67979400-67981800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:67979400-67981800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:67979400-67981800	Active TSS	Fetal Muscle Trunk	muscle
12	chr11:67979400-67981800	Active TSS	Right Ventricle	heart
13	chr11:67979400-67982000	Active TSS	H1 Cell Line	embryonic stem cell
14	chr11:67979400-67982000	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr11:67979400-67982000	Active TSS	Colon Smooth Muscle	Colon
16	chr11:67979400-67982000	Active TSS	Esophagus	oesophagus
17	chr11:67979400-67982000	Active TSS	Fetal Intestine Small	intestine
18	chr11:67979400-67982000	Active TSS	Lung	lung
19	chr11:67979400-67982000	Active TSS	Placenta Amnion	Placenta Amnion
20	chr11:67979400-67982000	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr11:67979400-67982000	Active TSS	Stomach Mucosa	stomach
22	chr11:67979400-67982000	Active TSS	NHDF-Ad	bronchial
23	chr11:67979400-67982200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:67979400-67982200	Active TSS	Left Ventricle	heart
25	chr11:67979400-67982200	Active TSS	Ovary	ovary
26	chr11:67979400-67982200	Active TSS	Psoas Muscle	Psoas
27	chr11:67979600-67981800	Active TSS	Primary T cells fromperipheralblood	blood
28	chr11:67979600-67981800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:67979600-67981800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:67979600-67981800	Active TSS	Placenta	Placenta
31	chr11:67979600-67981800	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr11:67979600-67981800	Active TSS	Stomach Smooth Muscle	stomach
33	chr11:67979600-67981800	Active TSS	NHLF	lung
34	chr11:67979600-67982000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:67979600-67982000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:67979600-67982000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:67979600-67982000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:67979600-67982000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:67979600-67982000	Active TSS	Aorta	Aorta
40	chr11:67979600-67982000	Active TSS	Brain Hippocampus Middle	brain
41	chr11:67979600-67982000	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr11:67979600-67982000	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr11:67979600-67982000	Active TSS	Rectal Smooth Muscle	rectum
44	chr11:67979600-67982000	Active TSS	A549	lung
45	chr11:67979600-67982000	Active TSS	GM12878-XiMat	blood
46	chr11:67979600-67982200	Active TSS	H9 Cell Line	embryonic stem cell
47	chr11:67979600-67982200	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr11:67979800-67981800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:67979800-67981800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:67979800-67981800	Active TSS	Cortex derived primary cultured neurospheres	brain

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