Variant report

Variant	rs12788118
Chromosome Location	chr11:76494220-76494221
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	MXI1	chr11:76492909-76496222	IMR90	lung:	n/a	chr11:76495006-76495021
2	MYC	chr11:76493742-76494852	MCF10A-Er-Src	breast:	n/a	chr11:76494160-76494170 chr11:76494703-76494719
3	TBP	chr11:76492899-76494311	Hela-S3	cervix:	n/a	n/a
4	TCF12	chr11:76493940-76494283	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:76493873-76494749	HCT-116	colon:	n/a	n/a
6	E2F6	chr11:76493973-76494931	K562	blood:	n/a	chr11:76494162-76494174
7	RCOR1	chr11:76493589-76494859	K562	blood:	n/a	n/a
8	TAF7	chr11:76493806-76494628	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr11:76493397-76495849	Hela-S3	cervix:	n/a	chr11:76495789-76495799 chr11:76494160-76494170 chr11:76494949-76494959 chr11:76494703-76494719
10	MAZ	chr11:76494058-76494411	GM12878	blood:	n/a	chr11:76494160-76494170
11	USF2	chr11:76493734-76494322	Hela-S3	cervix:	n/a	n/a
12	JUND	chr11:76494006-76494327	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZBTB7A	chr11:76494000-76494266	HepG2	liver:	n/a	n/a
14	CHD2	chr11:76494031-76494248	HepG2	liver:	n/a	chr11:76494165-76494175
15	TAF1	chr11:76493845-76495826	H1-hESC	embryonic stem cell:	n/a	n/a
16	STAT5A	chr11:76493981-76494334	K562	blood:	n/a	n/a
17	HCFC1	chr11:76493923-76494592	K562	blood:	n/a	n/a
18	TBP	chr11:76493968-76495623	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr11:76494056-76494522	HepG2	liver:	n/a	n/a
20	MAX	chr11:76493960-76494879	A549	lung:	n/a	chr11:76494160-76494170 chr11:76494703-76494719
21	SP4	chr11:76493856-76494332	H1-hESC	embryonic stem cell:	n/a	chr11:76494157-76494173
22	MYC	chr11:76494071-76494503	K562	blood:	n/a	chr11:76494160-76494170
23	MAX	chr11:76494042-76495208	HepG2	liver:	n/a	chr11:76494160-76494170 chr11:76494949-76494959 chr11:76494703-76494719
24	YY1	chr11:76493870-76494371	HCT-116	colon:	n/a	chr11:76494074-76494093 chr11:76494073-76494093 chr11:76494077-76494085
25	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
26	REST	chr11:76493885-76494296	HepG2	liver:	n/a	n/a
27	NFYA	chr11:76494135-76494499	Hela-S3	cervix:	n/a	n/a
28	YY1	chr11:76494052-76494312	GM12891	blood:	n/a	chr11:76494074-76494093 chr11:76494073-76494093 chr11:76494077-76494085
29	REST	chr11:76493172-76494890	A549	lung:	n/a	n/a
30	MYC	chr11:76494028-76494490	HepG2	liver:	n/a	chr11:76494160-76494170
31	HMGN3	chr11:76493994-76495857	K562	blood:	n/a	n/a
32	MAX	chr11:76493694-76496071	HCT-116	colon:	n/a	chr11:76495789-76495799 chr11:76494160-76494170 chr11:76494949-76494959 chr11:76494703-76494719
33	RAD21	chr11:76493913-76494306	SK-N-SH_RA	brain:	n/a	n/a
34	USF2	chr11:76494041-76494307	H1-hESC	embryonic stem cell:	n/a	n/a
35	PML	chr11:76493955-76494320	K562	blood:	n/a	n/a
36	E2F4	chr11:76493973-76494382	MCF10A-Er-Src	breast:	n/a	chr11:76494162-76494174
37	TAF1	chr11:76493945-76495702	HepG2	liver:	n/a	n/a
38	POLR2A	chr11:76493961-76495751	A549	lung:	n/a	n/a
39	CREB1	chr11:76493884-76494692	H1-hESC	embryonic stem cell:	n/a	n/a
40	EP300	chr11:76493687-76494448	A549	lung:	n/a	n/a
41	ZBTB7A	chr11:76493890-76494915	K562	blood:	n/a	chr11:76494843-76494854 chr11:76494842-76494853
42	YY1	chr11:76493830-76494699	HepG2	liver:	n/a	chr11:76494074-76494093 chr11:76494073-76494093 chr11:76494555-76494566 chr11:76494077-76494085
43	KAP1	chr11:76493840-76494263	U2OS	brain:	n/a	n/a
44	POLR2A	chr11:76493877-76494633	HUVEC	blood vessel:	n/a	n/a
45	JUND	chr11:76493955-76494458	HepG2	liver:	n/a	n/a
46	RAD21	chr11:76493733-76494447	IMR90	lung:	n/a	n/a
47	POLR2A	chr11:76493824-76494932	ECC-1	luminal epithelium:	n/a	n/a
48	MAX	chr11:76493901-76495857	ECC-1	luminal epithelium:	n/a	chr11:76495789-76495799 chr11:76494160-76494170 chr11:76494949-76494959 chr11:76494703-76494719
49	ZNF143	chr11:76493863-76494569	K562	blood:	n/a	chr11:76494552-76494562
50	HDAC2	chr11:76493956-76494832	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:76494176-76494226	RPTEC	kidney:	n/a
2	chr11:76494208-76494258	HepG2	liver:	n/a
3	chr11:76494176-76494226	GM06990	blood:	n/a
4	chr11:76494176-76494226	HL-60	blood:	n/a
5	chr11:76494208-76494258	HCPEpiC	choroid plexus:	n/a
6	chr11:76494176-76494226	NT2-D1	testis:	n/a
7	chr11:76494208-76494258	NB4	blood:	n/a
8	chr11:76494176-76494226	HIPEpiC	eye:	n/a
9	chr11:76494208-76494258	HNPCEpiC	eye:	n/a
10	chr11:76494176-76494226	K562	blood:	n/a
11	chr11:76494208-76494258	K562	blood:	n/a
12	chr11:76494176-76494226	HCF	heart:	n/a
13	chr11:76494208-76494258	HMEC	breast:	n/a
14	chr11:76494176-76494226	AG04449	skin:	fetal
15	chr11:76494176-76494226	BE2_C	brain:	n/a
16	chr11:76494208-76494258	NHDF-neo	bronchial:	n/a
17	chr11:76494176-76494226	HUVEC	blood vessel:	n/a
18	chr11:76494208-76494258	AG09309	skin:	n/a
19	chr11:76494176-76494226	HRPEpiC	eye:	n/a
20	chr11:76494176-76494226	MCF10A-Er-Src	breast:	n/a
21	chr11:76494208-76494258	HEEpiC	esophagus:	n/a
22	chr11:76494176-76494226	Caco-2	colon:	n/a
23	chr11:76494176-76494226	GM12878	blood:	n/a
24	chr11:76494208-76494258	PFSK-1	brain:	n/a
25	chr11:76494176-76494226	Jurkat	blood:	n/a
26	chr11:76494208-76494258	GM12892	blood:	n/a
27	chr11:76494176-76494226	H1-hESC	embryonic stem cell:	embryo
28	chr11:76494208-76494258	GM06990	blood:	n/a
29	chr11:76494176-76494226	HMEC	breast:	n/a
30	chr11:76494176-76494226	AG09309	skin:	n/a
31	chr11:76494176-76494226	ProgFib	skin:	n/a
32	chr11:76494208-76494258	ovcar-3	ovarian:	n/a
33	chr11:76494176-76494226	NHBE	bronchial:	n/a
34	chr11:76494208-76494258	HCM	heart:	n/a
35	chr11:76494176-76494226	SAEC	small airway:	n/a
36	chr11:76494208-76494258	HL-60	blood:	n/a
37	chr11:76494208-76494258	HRE	kidney:	n/a
38	chr11:76494176-76494226	A549	lung:	n/a
39	chr11:76494176-76494226	HPAEpiC	pulmonary alveolar:	n/a
40	chr11:76494176-76494226	NH-A	brain:	n/a
41	chr11:76494176-76494226	HRE	kidney:	n/a
42	chr11:76494176-76494226	SKMC	muscle:	n/a
43	chr11:76494176-76494226	GM12892	blood:	n/a
44	chr11:76494208-76494258	Hepatocyte	liver:	n/a
45	chr11:76494208-76494258	HIPEpiC	eye:	n/a
46	chr11:76494208-76494258	HRCEpiC	kidney:	n/a
47	chr11:76494208-76494258	AG04450	lung:	fetal
48	chr11:76494208-76494258	IMR90	lung:	fetal
49	chr11:76494208-76494258	RPTEC	kidney:	n/a
50	chr11:76494176-76494226	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr11:76494145..76494944-chr13:111367285..111367785,2	Hela-S3	cervix:
2	chr10:105421008..105421605-chr11:76493672..76494294,2	Hela-S3	cervix:
3	chr11:76493198..76494762-chr2:42794352..42797351,2	MCF-7	breast:
4	chr11:76493700..76494528-chr2:42795376..42795876,2	Hela-S3	cervix:
5	chr11:76493164..76499691-chr11:76510608..76517041,14	MCF-7	breast:
6	chr11:76494201..76496333-chr22:21271104..21273342,2	MCF-7	breast:
7	chr11:76493928..76495285-chr11:85955090..85956457,46	Hela-S3	cervix:
8	chr11:76493176..76494957-chr11:76635091..76637603,2	MCF-7	breast:
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	chr11:76492689..76500449-chr11:76507700..76515545,17	K562	blood:
14	chr11:76493938..76494543-chr9:113018656..113019298,2	Hela-S3	cervix:
15	chr11:72524343..72526457-chr11:76493236..76495527,2	MCF-7	breast:
16	chr11:76494114..76494622-chr16:31084698..31085327,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC32-6	chr11:76494035-76494238	XLOC_009509

Variant related genes	Relation type
TSKU	TF binding region
ENSG00000255100	TF binding region
TSKU	CpG island
ENSG00000255100	CpG island
ENSG00000151806	Chromatin interaction
ENSG00000254632	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000074266	Chromatin interaction
ENSG00000177752	Chromatin interaction
ENSG00000136810	Chromatin interaction
ENSG00000168010	Chromatin interaction
ENSG00000198488	Chromatin interaction
ENSG00000078124	Chromatin interaction
ENSG00000099942	Chromatin interaction
ENSG00000261578	Chromatin interaction
ENSG00000107957	Chromatin interaction
ENSG00000057935	Chromatin interaction
ENSG00000167394	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	0.87[EUR][1000 genomes]
rs10160769	0.87[EUR][1000 genomes]
rs10437754	0.87[EUR][1000 genomes]
rs10793194	0.87[EUR][1000 genomes]
rs10793195	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10899278	0.86[EUR][1000 genomes]
rs10899279	0.87[EUR][1000 genomes]
rs10899280	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10899281	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10899282	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10899283	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11236924	0.88[EUR][1000 genomes]
rs11236936	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12273016	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282785	0.87[EUR][1000 genomes]
rs12290350	0.83[EUR][1000 genomes]
rs1440977	0.87[EUR][1000 genomes]
rs1440978	0.87[EUR][1000 genomes]
rs1440979	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1440980	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1465900	0.87[EUR][1000 genomes]
rs1837679	0.83[EUR][1000 genomes]
rs1837680	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1866843	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758711	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4309181	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56228827	0.87[EUR][1000 genomes]
rs7107409	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737185	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7933092	0.86[EUR][1000 genomes]
rs7942337	0.86[EUR][1000 genomes]
rs7942368	0.86[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:127 , 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	chr11:76493200-76494400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:76493200-76494600	Active TSS	Right Atrium	heart
5	chr11:76493200-76495400	Active TSS	A549	lung
6	chr11:76493200-76495600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:76493200-76495800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:76493200-76496000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:76493200-76496000	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr11:76493200-76496000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:76493200-76496000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:76493200-76496000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:76493200-76496000	Active TSS	Stomach Mucosa	stomach
14	chr11:76493200-76496200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr11:76493200-76496200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr11:76493200-76496200	Active TSS	Fetal Kidney	kidney
17	chr11:76493200-76496400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr11:76493400-76494400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr11:76493400-76495600	Active TSS	HSMM	muscle
20	chr11:76493400-76495800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:76493400-76496000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:76493400-76496000	Active TSS	Psoas Muscle	Psoas
23	chr11:76493400-76496000	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr11:76493400-76496000	Active TSS	HSMMtube	muscle
25	chr11:76493600-76494400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:76493600-76494400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:76493600-76494600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
28	chr11:76493600-76494600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:76493600-76494600	Active TSS	Brain Hippocampus Middle	brain
30	chr11:76493600-76494600	Active TSS	Fetal Muscle Trunk	muscle
31	chr11:76493600-76494600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
32	chr11:76493600-76494600	Active TSS	HepG2	liver
33	chr11:76493600-76494800	Bivalent/Poised TSS	Primary T killer memory cells from peripheral blood	blood
34	chr11:76493600-76495000	Active TSS	Primary T cells from cord blood	blood
35	chr11:76493600-76495200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr11:76493600-76495200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:76493600-76495200	Active TSS	Fetal Stomach	stomach
38	chr11:76493600-76495400	Bivalent/Poised TSS	NHLF	lung
39	chr11:76493600-76495600	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr11:76493600-76495600	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr11:76493600-76495800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:76493600-76495800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:76493600-76495800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:76493600-76495800	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr11:76493600-76495800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:76493600-76495800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:76493600-76495800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:76493600-76495800	Active TSS	Brain Angular Gyrus	brain
49	chr11:76493600-76495800	Active TSS	Colon Smooth Muscle	Colon
50	chr11:76493600-76495800	Active TSS	Duodenum Mucosa	Duodenum

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