Variant report

Variant	rs1440979
Chromosome Location	chr11:76495129-76495130
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	HEY1	chr11:76494955-76495408	HepG2	liver:	n/a	n/a
2	MXI1	chr11:76492909-76496222	IMR90	lung:	n/a	chr11:76495006-76495021
3	YY1	chr11:76494993-76495754	HepG2	liver:	n/a	chr11:76495161-76495172 chr11:76495448-76495462
4	BCL3	chr11:76494951-76496284	A549	lung:	n/a	chr11:76495048-76495061 chr11:76494952-76494965
5	MAX	chr11:76493397-76495849	Hela-S3	cervix:	n/a	chr11:76495789-76495799 chr11:76494160-76494170 chr11:76494949-76494959 chr11:76494703-76494719
6	POLR2A	chr11:76495092-76495372	HepG2	liver:	n/a	n/a
7	HEY1	chr11:76495129-76495334	K562	blood:	n/a	n/a
8	TAF1	chr11:76493845-76495826	H1-hESC	embryonic stem cell:	n/a	n/a
9	TBP	chr11:76493968-76495623	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr11:76494042-76495208	HepG2	liver:	n/a	chr11:76494160-76494170 chr11:76494949-76494959 chr11:76494703-76494719
11	JUND	chr11:76493957-76495942	A549	lung:	n/a	chr11:76494953-76494962 chr11:76495700-76495708 chr11:76495792-76495801 chr11:76495793-76495802 chr11:76495794-76495803 chr11:76495791-76495800
12	POLR2A	chr11:76494985-76495824	K562	blood:	n/a	n/a
13	POLR2A	chr11:76494311-76495355	H1-hESC	embryonic stem cell:	n/a	n/a
14	HMGN3	chr11:76493994-76495857	K562	blood:	n/a	n/a
15	MAX	chr11:76493694-76496071	HCT-116	colon:	n/a	chr11:76495789-76495799 chr11:76494160-76494170 chr11:76494949-76494959 chr11:76494703-76494719
16	TAF1	chr11:76493945-76495702	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:76493961-76495751	A549	lung:	n/a	n/a
18	E2F6	chr11:76495121-76495295	K562	blood:	n/a	n/a
19	POLR2A	chr11:76494882-76495453	HepG2	liver:	n/a	n/a
20	CBX3	chr11:76495018-76496040	K562	blood:	n/a	n/a
21	MAX	chr11:76493901-76495857	ECC-1	luminal epithelium:	n/a	chr11:76495789-76495799 chr11:76494160-76494170 chr11:76494949-76494959 chr11:76494703-76494719
22	RAD21	chr11:76494721-76496172	IMR90	lung:	n/a	n/a
23	MYC	chr11:76493882-76495791	Hela-S3	cervix:	n/a	chr11:76494160-76494170 chr11:76494949-76494959 chr11:76494703-76494719
24	POLR2A	chr11:76493870-76495794	Hela-S3	cervix:	n/a	n/a
25	HEY1	chr11:76495123-76495377	K562	blood:	n/a	n/a
26	POLR2A	chr11:76494911-76495425	HepG2	liver:	n/a	n/a
27	SP1	chr11:76493694-76496200	A549	lung:	n/a	chr11:76494942-76494954 chr11:76495795-76495804 chr11:76494161-76494173 chr11:76494943-76494957 chr11:76495410-76495424 chr11:76495070-76495084 chr11:76494107-76494119 chr11:76494942-76494954 chr11:76495069-76495081 chr11:76494951-76494965 chr11:76495373-76495382 chr11:76494561-76494570 chr11:76493913-76493925 chr11:76494943-76494953 chr11:76494559-76494571 chr11:76495372-76495381 chr11:76494559-76494571 chr11:76494161-76494173 chr11:76494561-76494570 chr11:76494943-76494953 chr11:76494560-76494570 chr11:76494107-76494119 chr11:76495374-76495387 chr11:76495071-76495080 chr11:76494560-76494569 chr11:76494108-76494117 chr11:76494104-76494118 chr11:76494560-76494570 chr11:76493915-76493924 chr11:76495371-76495383 chr11:76494943-76494952 chr11:76494162-76494171 chr11:76494464-76494473 chr11:76494944-76494953 chr11:76494110-76494124 chr11:76494566-76494575 chr11:76494115-76494124
28	CREB1	chr11:76493650-76495844	HepG2	liver:	n/a	n/a
29	POLR2A	chr11:76493301-76495756	Hela-S3	cervix:	n/a	n/a
30	MAX	chr11:76493666-76495309	NB4	blood:	n/a	chr11:76494160-76494170 chr11:76494949-76494959 chr11:76494703-76494719
31	NR3C1	chr11:76493914-76495724	A549	lung:	n/a	chr11:76494961-76494974 chr11:76495256-76495269
32	MYC	chr11:76493772-76495339	NB4	blood:	n/a	chr11:76494160-76494170 chr11:76494949-76494959 chr11:76494703-76494719
33	CEBPD	chr11:76494890-76495487	HepG2	liver:	n/a	n/a
34	MAZ	chr11:76493779-76495559	HepG2	liver:	n/a	chr11:76494160-76494170 chr11:76494949-76494959 chr11:76494703-76494719
35	USF2	chr11:76495124-76495287	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr11:76495107-76495767	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr11:76491728-76497876	HepG2	liver:	n/a	n/a
38	ZBTB7A	chr11:76494956-76495347	HepG2	liver:	n/a	chr11:76495117-76495128 chr11:76495118-76495129
39	TAF1	chr11:76493296-76495927	A549	lung:	n/a	n/a
40	EP300	chr11:76495046-76495209	HepG2	liver:	n/a	chr11:76495158-76495174
41	RAD21	chr11:76494935-76495413	H1-hESC	embryonic stem cell:	n/a	n/a
42	YY1	chr11:76495082-76495626	SK-N-SH_RA	brain:	n/a	chr11:76495161-76495172 chr11:76495448-76495462
43	POLR2A	chr11:76493898-76495921	K562	blood:	n/a	n/a
44	CREB1	chr11:76493957-76495353	A549	lung:	n/a	n/a
45	HCFC1	chr11:76492743-76496293	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr11:76495108-76495390	A549	lung:	n/a	n/a
47	RFX5	chr11:76495124-76495299	HepG2	liver:	n/a	n/a
48	POLR2A	chr11:76493931-76495420	H1-neurons	neurons:	n/a	n/a
49	SIN3A	chr11:76493853-76495951	H1-hESC	embryonic stem cell:	n/a	chr11:76495474-76495487 chr11:76495137-76495146 chr11:76495775-76495786 chr11:76495668-76495677 chr11:76494753-76494766 chr11:76495161-76495172
50	POLR2A	chr11:76494917-76495420	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:76495102..76495960-chr6:28303473..28304442,2	Hela-S3	cervix:
2	chr11:76493164..76499691-chr11:76510608..76517041,14	MCF-7	breast:
3	chr11:76494228..76495150-chr15:72410031..72410556,2	Hela-S3	cervix:
4	chr11:76494290..76496487-chr11:76570623..76573983,3	K562	blood:
5	chr11:76494634..76496487-chr11:76571954..76573983,2	K562	blood:
6	chr11:76494201..76496333-chr22:21271104..21273342,2	MCF-7	breast:
7	chr11:76493928..76495285-chr11:85955090..85956457,46	Hela-S3	cervix:
8	chr11:76494689..76495371-chr15:44038517..44039029,2	Hela-S3	cervix:
9	chr11:76475599..76479568-chr11:76492254..76495485,3	K562	blood:
10	chr11:76493101..76495858-chr11:76570734..76573156,2	MCF-7	breast:
11	chr11:76494209..76495135-chr4:44680233..44681167,2	Hela-S3	cervix:
12	chr11:76492395..76495773-chr11:76745021..76748563,5	MCF-7	breast:
13	chr1:20834119..20834737-chr11:76494957..76495699,2	Hela-S3	cervix:
14	chr11:76492689..76500449-chr11:76507700..76515545,17	K562	blood:
15	chr11:72524343..72526457-chr11:76493236..76495527,2	MCF-7	breast:

Variant related genes	Relation type
TSKU	TF binding region
ENSG00000255100	TF binding region
ENSG00000198488	Chromatin interaction
ENSG00000066933	Chromatin interaction
ENSG00000254632	Chromatin interaction
ENSG00000168010	Chromatin interaction
ENSG00000099942	Chromatin interaction
ENSG00000074266	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000090432	Chromatin interaction
ENSG00000151806	Chromatin interaction
ENSG00000167004	Chromatin interaction
ENSG00000261578	Chromatin interaction
ENSG00000078124	Chromatin interaction
ENSG00000177752	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10160660	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10160769	0.99[EUR][1000 genomes]
rs10437754	0.99[EUR][1000 genomes]
rs10793194	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10793195	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10899278	0.98[EUR][1000 genomes]
rs10899279	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10899280	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10899281	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10899282	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10899283	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11236924	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11236936	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12273016	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12282785	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12290350	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12788118	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1440977	0.99[EUR][1000 genomes]
rs1440978	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1440980	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1465900	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1837679	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1837680	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1866843	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3758711	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4309181	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56228827	0.99[EUR][1000 genomes]
rs7107409	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs737185	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7933092	0.97[EUR][1000 genomes]
rs7942337	0.98[EUR][1000 genomes]
rs7942368	0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897931	chr11:76489673-76540708	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76492600-76495800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:76492600-76496400	Active TSS	Rectal Smooth Muscle	rectum
3	chr11:76493200-76495400	Active TSS	A549	lung
4	chr11:76493200-76495600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:76493200-76495800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:76493200-76496000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:76493200-76496000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr11:76493200-76496000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:76493200-76496000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:76493200-76496000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:76493200-76496000	Active TSS	Stomach Mucosa	stomach
12	chr11:76493200-76496200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr11:76493200-76496200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr11:76493200-76496200	Active TSS	Fetal Kidney	kidney
15	chr11:76493200-76496400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:76493400-76495600	Active TSS	HSMM	muscle
17	chr11:76493400-76495800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:76493400-76496000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:76493400-76496000	Active TSS	Psoas Muscle	Psoas
20	chr11:76493400-76496000	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr11:76493400-76496000	Active TSS	HSMMtube	muscle
22	chr11:76493600-76495200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr11:76493600-76495200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:76493600-76495200	Active TSS	Fetal Stomach	stomach
25	chr11:76493600-76495400	Bivalent/Poised TSS	NHLF	lung
26	chr11:76493600-76495600	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr11:76493600-76495600	Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr11:76493600-76495800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:76493600-76495800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:76493600-76495800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:76493600-76495800	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr11:76493600-76495800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:76493600-76495800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:76493600-76495800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:76493600-76495800	Active TSS	Brain Angular Gyrus	brain
36	chr11:76493600-76495800	Active TSS	Colon Smooth Muscle	Colon
37	chr11:76493600-76495800	Active TSS	Duodenum Mucosa	Duodenum
38	chr11:76493600-76495800	Active TSS	Small Intestine	intestine
39	chr11:76493600-76495800	Active TSS	Hela-S3	cervix
40	chr11:76493600-76495800	Active TSS	HMEC	breast
41	chr11:76493600-76495800	Active TSS	NHEK	skin
42	chr11:76493600-76495800	Active TSS	Osteobl	bone
43	chr11:76493600-76496000	Active TSS	H1 Cell Line	embryonic stem cell
44	chr11:76493600-76496000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:76493600-76496000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:76493600-76496000	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr11:76493600-76496000	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr11:76493600-76496000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr11:76493600-76496000	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr11:76493600-76496000	Active TSS	Aorta	Aorta

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