Variant report

Variant	rs11228137
Chromosome Location	chr11:67889375-67889376
allele	C/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	USF2	chr11:67889226-67889477	K562	blood:	n/a	n/a
2	ZBTB7A	chr11:67888842-67889439	K562	blood:	n/a	chr11:67889056-67889065
3	POLR2A	chr11:67888504-67889944	GM12892	blood:	n/a	n/a
4	TAF1	chr11:67888610-67889473	ECC-1	luminal epithelium:	n/a	n/a
5	BHLHE40	chr11:67888653-67889927	HepG2	liver:	n/a	chr11:67888668-67888684 chr11:67888665-67888681
6	CEBPB	chr11:67889266-67889395	HepG2	liver:	n/a	n/a
7	MAZ	chr11:67887951-67889873	Hela-S3	cervix:	n/a	chr11:67889677-67889686 chr11:67889706-67889716 chr11:67889611-67889621 chr11:67889212-67889221 chr11:67889233-67889242
8	MAX	chr11:67888181-67890040	A549	lung:	n/a	chr11:67889677-67889686 chr11:67889706-67889716 chr11:67889611-67889621 chr11:67889212-67889221 chr11:67889233-67889242
9	ZNF143	chr11:67888943-67889791	Hela-S3	cervix:	n/a	chr11:67889106-67889116
10	ZKSCAN1	chr11:67888767-67889889	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:67888604-67889818	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3AK20	chr11:67888196-67889587	PANC-1	pancreas:	n/a	n/a
13	TCF12	chr11:67888766-67889984	A549	lung:	n/a	n/a
14	MXI1	chr11:67888518-67889859	GM12878	blood:	n/a	n/a
15	REST	chr11:67889140-67889992	ECC-1	luminal epithelium:	n/a	chr11:67889545-67889565 chr11:67889545-67889565 chr11:67889551-67889565 chr11:67889550-67889559 chr11:67889545-67889565 chr11:67889546-67889564
16	NR2F2	chr11:67888891-67889651	MCF-7	breast:	n/a	n/a
17	MTA3	chr11:67888958-67890083	GM12878	blood:	n/a	n/a
18	E2F6	chr11:67888695-67889675	A549	lung:	n/a	chr11:67888912-67888921 chr11:67889041-67889050 chr11:67888856-67888866 chr11:67888742-67888751 chr11:67889025-67889035
19	POLR2A	chr11:67888690-67889942	HepG2	liver:	n/a	n/a
20	ZNF143	chr11:67888957-67889544	H1-hESC	embryonic stem cell:	n/a	chr11:67889106-67889116
21	STAT3	chr11:67889265-67889542	GM12878	blood:	n/a	chr11:67889474-67889486 chr11:67889268-67889276
22	POLR2A	chr11:67888234-67889690	GM18951	blood:	n/a	n/a
23	NFIC	chr11:67888967-67889575	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr11:67888579-67889381	A549	lung:	n/a	n/a
25	E2F6	chr11:67888571-67889817	A549	lung:	n/a	chr11:67888912-67888921 chr11:67889041-67889050 chr11:67888856-67888866 chr11:67888742-67888751 chr11:67888662-67888671 chr11:67889025-67889035
26	NR2F2	chr11:67888793-67889819	MCF-7	breast:	n/a	n/a
27	POLR2A	chr11:67888223-67889956	GM12878	blood:	n/a	n/a
28	TAF1	chr11:67888602-67889550	MCF-7	breast:	n/a	n/a
29	ELF1	chr11:67888764-67889855	GM12878	blood:	n/a	chr11:67888949-67888958 chr11:67889122-67889131 chr11:67888854-67888866
30	RFX5	chr11:67888531-67889639	SK-N-SH	brain:	n/a	chr11:67888975-67888984 chr11:67888911-67888920
31	RAD21	chr11:67888831-67889773	H1-hESC	embryonic stem cell:	n/a	chr11:67889512-67889524
32	ZBTB7A	chr11:67887991-67889390	K562	blood:	n/a	chr11:67889056-67889065 chr11:67888712-67888721
33	REST	chr11:67889206-67889889	PFSK-1	brain:	n/a	chr11:67889545-67889565 chr11:67889545-67889565 chr11:67889551-67889565 chr11:67889550-67889559 chr11:67889545-67889565 chr11:67889546-67889564
34	REST	chr11:67889370-67889789	GM12878	blood:	n/a	chr11:67889545-67889565 chr11:67889545-67889565 chr11:67889551-67889565 chr11:67889550-67889559 chr11:67889545-67889565 chr11:67889546-67889564
35	MAX	chr11:67888629-67889866	H1-hESC	embryonic stem cell:	n/a	chr11:67889677-67889686 chr11:67889706-67889716 chr11:67889611-67889621 chr11:67889212-67889221 chr11:67889233-67889242
36	HA-E2F1	chr11:67888822-67889544	MCF-7	breast:	n/a	chr11:67888912-67888921 chr11:67889041-67889050 chr11:67888856-67888866 chr11:67889025-67889035
37	POLR2A	chr11:67888772-67889980	HepG2	liver:	n/a	n/a
38	REST	chr11:67888935-67889886	U87	brain:	n/a	chr11:67889091-67889104 chr11:67889545-67889565 chr11:67889545-67889565 chr11:67889551-67889565 chr11:67889550-67889559 chr11:67889109-67889122 chr11:67889112-67889125 chr11:67889545-67889565 chr11:67889546-67889564
39	YY1	chr11:67888458-67889870	HepG2	liver:	n/a	chr11:67888751-67888765 chr11:67888989-67888998 chr11:67888755-67888766 chr11:67888986-67888995 chr11:67888950-67888964 chr11:67889100-67889114 chr11:67888981-67888995 chr11:67888757-67888766 chr11:67888748-67888759 chr11:67889103-67889117 chr11:67888949-67888958 chr11:67889041-67889050
40	USF1	chr11:67889167-67889431	K562	blood:	n/a	n/a
41	POLR2A	chr11:67888227-67890120	Hela-S3	cervix:	n/a	n/a
42	ESRRA	chr11:67888274-67890062	GM12878	blood:	n/a	chr11:67889306-67889318 chr11:67889302-67889318 chr11:67889306-67889316
43	POLR2A	chr11:67888631-67889526	HL-60	blood:	n/a	n/a
44	TAF1	chr11:67888621-67889415	PFSK-1	brain:	n/a	n/a
45	STAT5A	chr11:67889055-67889861	GM12878	blood:	n/a	chr11:67889474-67889486 chr11:67889268-67889276
46	REST	chr11:67888663-67889780	HepG2	liver:	n/a	chr11:67889091-67889104 chr11:67889545-67889565 chr11:67889545-67889565 chr11:67889551-67889565 chr11:67889550-67889559 chr11:67889109-67889122 chr11:67889112-67889125 chr11:67889545-67889565 chr11:67889546-67889564
47	REST	chr11:67889277-67889828	HCT-116	colon:	n/a	chr11:67889545-67889565 chr11:67889545-67889565 chr11:67889551-67889565 chr11:67889550-67889559 chr11:67889545-67889565 chr11:67889546-67889564
48	POLR2A	chr11:67888644-67889451	K562	blood:	n/a	n/a
49	MAX	chr11:67888694-67889901	HepG2	liver:	n/a	chr11:67889677-67889686 chr11:67889706-67889716 chr11:67889611-67889621 chr11:67889212-67889221 chr11:67889233-67889242
50	POLR2A	chr11:67888529-67889922	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67805173..67807792-chr11:67887405..67889765,3	K562	blood:
2	chr11:67772162..67773973-chr11:67887199..67889790,2	K562	blood:
3	chr11:67805532..67808187-chr11:67887312..67890096,4	MCF-7	breast:
4	chr11:67888893..67889536-chr5:149534758..149535758,2	Hela-S3	cervix:
5	chr11:67888702..67889469-chr12:46661053..46661870,2	Hela-S3	cervix:
6	chr11:67888934..67889819-chr19:46010404..46011013,2	Hela-S3	cervix:
7	chr11:67888366..67890483-chr11:68038112..68039690,2	K562	blood:
8	chr11:67856873..67858928-chr11:67888332..67890315,2	K562	blood:
9	chr11:67887483..67890032-chr11:67980873..67983925,4	MCF-7	breast:
10	chr11:67796203..67799766-chr11:67888971..67890534,5	MCF-7	breast:
11	chr11:67796973..67799745-chr11:67886868..67889859,3	MCF-7	breast:
12	chr11:67888951..67889473-chr6:43969361..43969867,2	Hela-S3	cervix:
13	chr11:67887256..67890230-chr11:67980200..67982109,4	MCF-7	breast:
14	chr10:99496905..99497501-chr11:67888548..67889429,2	Hela-S3	cervix:
15	chr11:67889304..67890106-chr3:145878724..145879660,2	Hela-S3	cervix:
16	chr11:67796548..67799452-chr11:67888689..67890440,2	K562	blood:
17	chr11:67764595..67767102-chr11:67888272..67890683,2	K562	blood:
18	chr11:67889083..67889616-chr14:68161938..68162480,2	Hela-S3	cervix:
19	chr11:67771335..67773099-chr11:67888319..67890316,2	MCF-7	breast:
20	chr11:67886377..67890473-chr11:67979925..67982167,7	K562	blood:
21	chr11:67888837..67889515-chr12:112450238..112451071,2	Hela-S3	cervix:
22	chr11:67887936..67890486-chr11:67979082..67980750,2	MCF-7	breast:
23	chr11:67887644..67890253-chr11:67979136..67982167,3	K562	blood:
24	chr11:67888805..67889413-chr17:34957650..34958285,2	Hela-S3	cervix:
25	chr11:67770998..67775364-chr11:67887455..67891345,5	MCF-7	breast:
26	chr11:67809131..67812171-chr11:67888117..67890461,4	MCF-7	breast:
27	chr11:8710001..8710863-chr11:67889168..67889751,2	Hela-S3	cervix:
28	chr11:67805173..67809189-chr11:67886289..67889765,4	K562	blood:
29	chr11:67888938..67889526-chr14:91884442..91885010,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCIRG1-2	chr11:67889047-67889670	XLOC_009183
2	lnc-TCIRG1-2	chr11:67889103-67889670	NONHSAT022507

Variant related genes	Relation type
CHKA	TF binding region
ENSG00000255236	TF binding region
ENSG00000171067	Chromatin interaction
ENSG00000110717	Chromatin interaction
ENSG00000110721	Chromatin interaction
ENSG00000072042	Chromatin interaction
ENSG00000113721	Chromatin interaction
ENSG00000110066	Chromatin interaction
ENSG00000111371	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000198270	Chromatin interaction
ENSG00000125753	Chromatin interaction
ENSG00000258798	Chromatin interaction
ENSG00000255306	Chromatin interaction
ENSG00000155256	Chromatin interaction
ENSG00000110719	Chromatin interaction
ENSG00000152952	Chromatin interaction
ENSG00000110057	Chromatin interaction
ENSG00000129282	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10791956	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10791957	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10896293	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896295	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11228129	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11228131	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11228133	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11228136	0.85[ASN][1000 genomes]
rs11535788	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11824199	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2457179	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2457180	0.85[ASN][1000 genomes]
rs2511437	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2511467	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2511468	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2511470	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2511475	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2511478	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2511479	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2512611	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2512612	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2512624	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3133327	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3819255	0.85[ASN][1000 genomes]
rs3935460	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4073551	0.85[ASN][1000 genomes]
rs4420277	0.81[ASN][1000 genomes]
rs4930227	0.89[ASN][1000 genomes]
rs4930557	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61890478	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6591331	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6591333	0.82[AMR][1000 genomes]
rs7104982	0.82[ASN][1000 genomes]
rs7123183	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71480230	0.84[ASN][1000 genomes]
rs7925022	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7925423	0.88[ASN][1000 genomes]
rs7928739	0.83[ASN][1000 genomes]
rs7940113	0.82[ASN][1000 genomes]
rs7940217	0.85[ASN][1000 genomes]
rs7940501	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7944372	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427892	chr11:67451649-67926562	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	esv2757450	chr11:67472905-67891289	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
3	esv2759835	chr11:67472905-67891289	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
4	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
5	nsv371	chr11:67881973-67891493	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	esv3334494	chr11:67887076-67890174	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	esv3402270	chr11:67887201-67889749	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv3448437	chr11:67887501-67889924	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	esv3339300	chr11:67887601-67890149	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr11:67886000-67889600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:67886600-67889400	Active TSS	Brain Germinal Matrix	brain
3	chr11:67886600-67889600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr11:67886600-67890000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:67886800-67889400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:67886800-67889400	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr11:67886800-67889400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:67886800-67889400	Active TSS	Brain Anterior Caudate	brain
9	chr11:67886800-67889400	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr11:67886800-67889400	Active TSS	Fetal Brain Female	brain
11	chr11:67886800-67889400	Active TSS	Pancreas	Pancrea
12	chr11:67886800-67889600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:67886800-67889600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:67886800-67889600	Active TSS	Brain Substantia Nigra	brain
15	chr11:67886800-67889800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:67887000-67889400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:67887000-67889400	Active TSS	Brain Cingulate Gyrus	brain
18	chr11:67887000-67889400	Active TSS	Gastric	stomach
19	chr11:67887000-67889400	Active TSS	K562	blood
20	chr11:67887200-67889400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:67887400-67889400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:67887400-67889400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:67887400-67889400	Active TSS	Brain Hippocampus Middle	brain
24	chr11:67887400-67889400	Active TSS	Psoas Muscle	Psoas
25	chr11:67887400-67889400	Active TSS	Right Ventricle	heart
26	chr11:67887400-67889400	Active TSS	HSMM	muscle
27	chr11:67887400-67889600	Active TSS	Small Intestine	intestine
28	chr11:67887600-67889400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:67887600-67889400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:67887600-67889400	Active TSS	Colon Smooth Muscle	Colon
31	chr11:67887600-67889400	Active TSS	Duodenum Mucosa	Duodenum
32	chr11:67887600-67889600	Active TSS	Lung	lung
33	chr11:67887600-67889600	Active TSS	Ovary	ovary
34	chr11:67887600-67889600	Active TSS	Right Atrium	heart
35	chr11:67887800-67889400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr11:67887800-67889400	Active TSS	Aorta	Aorta
37	chr11:67887800-67889400	Active TSS	Left Ventricle	heart
38	chr11:67887800-67889600	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr11:67888000-67889400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:67888000-67889400	Active TSS	Adipose Nuclei	Adipose
41	chr11:67888000-67889400	Active TSS	Liver	Liver
42	chr11:67888000-67889400	Active TSS	Brain Angular Gyrus	brain
43	chr11:67888000-67889400	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr11:67888000-67889400	Active TSS	Hela-S3	cervix
45	chr11:67888000-67889400	Active TSS	HepG2	liver
46	chr11:67888000-67889400	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr11:67888000-67890000	Active TSS	Primary T cells from cord blood	blood
48	chr11:67888200-67889400	Active TSS	Primary B cells from peripheral blood	blood
49	chr11:67888200-67889400	Active TSS	Spleen	Spleen
50	chr11:67889000-67889400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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