Variant report

Variant	rs11020196
Chromosome Location	chr11:92931056-92931057
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	TCF12	chr11:92930171-92931335	A549	lung:	n/a	n/a
2	POLR2A	chr11:92930210-92931455	SK-N-MC	brain:	n/a	n/a
3	E2F1	chr11:92930500-92931371	Hela-S3	cervix:	n/a	chr11:92931195-92931207
4	POLR2A	chr11:92930273-92931522	H1-neurons	neurons:	n/a	n/a
5	REST	chr11:92930658-92931903	GM12878	blood:	n/a	chr11:92931581-92931601 chr11:92931403-92931412 chr11:92931589-92931599 chr11:92931587-92931601 chr11:92931581-92931601 chr11:92931581-92931601
6	POLR2A	chr11:92929821-92931592	MCF10A-Er-Src	breast:	n/a	n/a
7	PML	chr11:92930226-92931104	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:92930209-92931363	Hela-S3	cervix:	n/a	n/a
9	ZBTB7A	chr11:92930620-92931453	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr11:92930308-92931445	HCT-116	colon:	n/a	n/a
11	EGR1	chr11:92930391-92931375	HCT-116	colon:	n/a	chr11:92930921-92930935 chr11:92930922-92930935 chr11:92930900-92930909 chr11:92930899-92930912 chr11:92931150-92931159 chr11:92930922-92930935 chr11:92930923-92930934 chr11:92930900-92930911 chr11:92930919-92930933 chr11:92930923-92930933 chr11:92930866-92930879 chr11:92930922-92930935 chr11:92930896-92930910
12	POLR2A	chr11:92930327-92931469	GM18505	blood:	n/a	n/a
13	POLR2A	chr11:92929827-92931963	MCF10A-Er-Src	breast:	n/a	n/a
14	YY1	chr11:92930305-92931329	GM12892	blood:	n/a	chr11:92931018-92931027 chr11:92931179-92931193
15	POLR2A	chr11:92930364-92931287	GM18951	blood:	n/a	n/a
16	EGR1	chr11:92930615-92931177	H1-hESC	embryonic stem cell:	n/a	chr11:92930921-92930935 chr11:92930922-92930935 chr11:92930900-92930909 chr11:92930899-92930912 chr11:92931150-92931159 chr11:92930922-92930935 chr11:92930923-92930934 chr11:92930900-92930911 chr11:92930919-92930933 chr11:92930923-92930933 chr11:92930866-92930879 chr11:92930922-92930935 chr11:92930896-92930910
17	TAF1	chr11:92930375-92931198	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr11:92930339-92931224	K562	blood:	n/a	n/a
19	POLR2A	chr11:92930890-92931279	K562	blood:	n/a	n/a
20	MAX	chr11:92930162-92931804	NB4	blood:	n/a	chr11:92930901-92930910 chr11:92930897-92930907
21	STAT1	chr11:92930516-92931421	GM12878	blood:	n/a	chr11:92931196-92931208
22	POLR2A	chr11:92930248-92931555	HL-60	blood:	n/a	n/a
23	TCF12	chr11:92930525-92931201	GM12878	blood:	n/a	n/a
24	REST	chr11:92930911-92931896	Hela-S3	cervix:	n/a	chr11:92931581-92931601 chr11:92931403-92931412 chr11:92931589-92931599 chr11:92931587-92931601 chr11:92931581-92931601 chr11:92931581-92931601
25	CCNT2	chr11:92930714-92931265	K562	blood:	n/a	n/a
26	POLR2A	chr11:92930424-92931348	HCT-116	colon:	n/a	n/a
27	CREB1	chr11:92930412-92931259	A549	lung:	n/a	n/a
28	POLR2A	chr11:92930352-92931417	HCT-116	colon:	n/a	n/a
29	REST	chr11:92930719-92932016	ECC-1	luminal epithelium:	n/a	chr11:92931581-92931601 chr11:92931403-92931412 chr11:92931589-92931599 chr11:92931587-92931601 chr11:92931581-92931601 chr11:92931581-92931601
30	EGR1	chr11:92930542-92931129	K562	blood:	n/a	chr11:92930921-92930935 chr11:92930922-92930935 chr11:92930900-92930909 chr11:92930899-92930912 chr11:92930922-92930935 chr11:92930923-92930934 chr11:92930900-92930911 chr11:92930919-92930933 chr11:92930923-92930933 chr11:92930866-92930879 chr11:92930922-92930935 chr11:92930896-92930910
31	POLR2A	chr11:92929934-92931416	GM19099	blood:	n/a	n/a
32	ZNF143	chr11:92930030-92931741	GM12878	blood:	n/a	chr11:92931183-92931193 chr11:92931118-92931128 chr11:92930661-92930676
33	EGR1	chr11:92930739-92931083	GM12878	blood:	n/a	chr11:92930921-92930935 chr11:92930922-92930935 chr11:92930900-92930909 chr11:92930899-92930912 chr11:92930922-92930935 chr11:92930923-92930934 chr11:92930900-92930911 chr11:92930919-92930933 chr11:92930923-92930933 chr11:92930866-92930879 chr11:92930922-92930935 chr11:92930896-92930910
34	JUND	chr11:92930891-92931160	H1-hESC	embryonic stem cell:	n/a	chr11:92931110-92931119
35	REST	chr11:92930516-92931962	SK-N-SH	brain:	n/a	chr11:92931581-92931601 chr11:92931403-92931412 chr11:92931589-92931599 chr11:92931587-92931601 chr11:92931581-92931601 chr11:92931581-92931601
36	POLR2A	chr11:92930945-92931212	HepG2	liver:	n/a	n/a
37	MAX	chr11:92930257-92931571	HCT-116	colon:	n/a	chr11:92930901-92930910 chr11:92930897-92930907
38	HEY1	chr11:92930404-92931295	HepG2	liver:	n/a	n/a
39	MAX	chr11:92930453-92931305	MCF-7	breast:	n/a	chr11:92930901-92930910 chr11:92930897-92930907
40	POLR2A	chr11:92929905-92931487	H1-hESC	embryonic stem cell:	n/a	n/a
41	EGR1	chr11:92930600-92931097	K562	blood:	n/a	chr11:92930921-92930935 chr11:92930922-92930935 chr11:92930900-92930909 chr11:92930899-92930912 chr11:92930922-92930935 chr11:92930923-92930934 chr11:92930900-92930911 chr11:92930919-92930933 chr11:92930923-92930933 chr11:92930866-92930879 chr11:92930922-92930935 chr11:92930896-92930910
42	POLR2A	chr11:92930401-92931230	GM12878	blood:	n/a	n/a
43	FOXP2	chr11:92930772-92931256	PFSK-1	brain:	n/a	n/a
44	EBF1	chr11:92930723-92931402	GM12878	blood:	n/a	chr11:92931323-92931332 chr11:92931322-92931333 chr11:92931321-92931334
45	YY1	chr11:92930986-92931280	HCT-116	colon:	n/a	chr11:92931018-92931027 chr11:92931179-92931193
46	TBL1XR1	chr11:92930415-92931246	GM12878	blood:	n/a	n/a
47	POLR2A	chr11:92930341-92931492	HepG2	liver:	n/a	n/a
48	JUND	chr11:92930060-92932071	SK-N-SH	brain:	n/a	chr11:92931110-92931119 chr11:92930592-92930601 chr11:92930621-92930632
49	POLR2A	chr11:92930261-92931128	GM12878	blood:	n/a	n/a
50	RCOR1	chr11:92930475-92931290	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:92930510..92931167-chr7:75677293..75677907,2	NB4	blood:
2	chr11:92930328..92931259-chr17:73775093..73776047,2	Hela-S3	cervix:
3	chr1:9599460..9600393-chr11:92930413..92931236,2	NB4	blood:

Variant related genes	Relation type
SLC36A4	TF binding region
ENSG00000127952	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000146701	Chromatin interaction
ENSG00000171612	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10830986	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10830987	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10830990	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10830992	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10830993	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10830995	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10830997	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10830999	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10831000	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10831001	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10831002	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10831007	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11020180	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11020183	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11020189	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11020190	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11020191	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11020192	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11020197	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020198	0.97[ASN][1000 genomes]
rs11020199	0.93[ASN][1000 genomes]
rs11020200	0.93[ASN][1000 genomes]
rs11020204	0.83[ASN][1000 genomes]
rs11020206	0.88[ASN][1000 genomes]
rs11020207	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11020208	0.94[ASN][1000 genomes]
rs12221889	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12365990	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1446915	0.83[ASN][1000 genomes]
rs1446916	0.83[ASN][1000 genomes]
rs16918625	0.86[ASN][1000 genomes]
rs16918677	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2121467	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2166583	0.92[ASN][1000 genomes]
rs2399605	0.93[ASN][1000 genomes]
rs3758676	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3943572	0.94[ASN][1000 genomes]
rs3957618	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4753437	0.98[ASN][1000 genomes]
rs4753438	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4753439	0.93[ASN][1000 genomes]
rs58121936	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs66763553	0.88[ASN][1000 genomes]
rs67573258	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7121033	0.94[ASN][1000 genomes]
rs7121713	0.94[ASN][1000 genomes]
rs7933585	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933922	0.93[ASN][1000 genomes]
rs7936669	0.93[ASN][1000 genomes]
rs7936931	0.93[ASN][1000 genomes]
rs935447	0.97[ASN][1000 genomes]
rs935448	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039134	chr11:92790000-93219942	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv898176	chr11:92877533-92965312	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv898177	chr11:92877533-92971874	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv898178	chr11:92881933-92949447	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv898179	chr11:92881933-92956873	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv818858	chr11:92898342-92932229	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv2757465	chr11:92898342-92934137	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv2759853	chr11:92898342-92934137	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv2829957	chr11:92915544-92932229	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	esv33564	chr11:92918600-92936545	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 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	chr11:92928800-92931800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:92929800-92931400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:92929800-92931600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:92929800-92931600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:92929800-92931600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr11:92929800-92931600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr11:92929800-92931600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr11:92929800-92931600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:92929800-92931600	Active TSS	Muscle Satellite Cultured Cells	--
10	chr11:92929800-92931600	Active TSS	Brain Anterior Caudate	brain
11	chr11:92929800-92931600	Active TSS	Brain Hippocampus Middle	brain
12	chr11:92929800-92931600	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr11:92929800-92931600	Active TSS	A549	lung
14	chr11:92929800-92931600	Active TSS	GM12878-XiMat	blood
15	chr11:92929800-92931800	Active TSS	H1 Cell Line	embryonic stem cell
16	chr11:92929800-92931800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:92929800-92931800	Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr11:92929800-92931800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:92929800-92931800	Active TSS	Brain Angular Gyrus	brain
20	chr11:92929800-92931800	Active TSS	Brain Germinal Matrix	brain
21	chr11:92929800-92931800	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr11:92929800-92931800	Active TSS	Fetal Lung	lung
23	chr11:92929800-92931800	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr11:92929800-92931800	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr11:92929800-92931800	Active TSS	Thymus	Thymus
26	chr11:92929800-92932000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:92929800-92932000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:92929800-92932000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr11:92929800-92932000	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr11:92929800-92932000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:92929800-92932000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr11:92929800-92932000	Active TSS	NHLF	lung
33	chr11:92930000-92931400	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr11:92930000-92931600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:92930000-92931600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:92930000-92931600	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr11:92930000-92931600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:92930000-92931600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:92930000-92931600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:92930000-92931600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:92930000-92931600	Active TSS	Fetal Muscle Trunk	muscle
42	chr11:92930000-92931600	Active TSS	Fetal Muscle Leg	muscle
43	chr11:92930000-92931600	Active TSS	Fetal Stomach	stomach
44	chr11:92930000-92931600	Active TSS	Fetal Thymus	thymus
45	chr11:92930000-92931600	Active TSS	Right Ventricle	heart
46	chr11:92930000-92931600	Active TSS	HSMM	muscle
47	chr11:92930000-92931600	Active TSS	HSMMtube	muscle
48	chr11:92930000-92931600	Active TSS	K562	blood
49	chr11:92930000-92931600	Active TSS	NHDF-Ad	bronchial
50	chr11:92930000-92931800	Active TSS	H9 Cell Line	embryonic stem cell

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