Variant report

Variant	rs320151
Chromosome Location	chr11:63766764-63766765
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	CTCF	chr11:63766560-63766810	GM12865	blood:	n/a	n/a
2	JUND	chr11:63766735-63766864	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:63765985-63768345	GM12878	blood:	n/a	n/a
4	CREB1	chr11:63766581-63767524	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:63766406-63767470	MCF-7	breast:	n/a	n/a
6	POLR2A	chr11:63765064-63767984	GM12892	blood:	n/a	n/a
7	POLR2A	chr11:63766389-63768188	U87	brain:	n/a	n/a
8	POLR2A	chr11:63765620-63767325	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:63763487-63769382	K562	blood:	n/a	n/a
10	MYC	chr11:63766642-63767192	MCF-7	breast:	n/a	chr11:63766914-63766924
11	CTCF	chr11:63766577-63766771	K562	blood:	n/a	n/a
12	ELF1	chr11:63766675-63767386	GM12878	blood:	n/a	n/a
13	RAD21	chr11:63766401-63766879	H1-hESC	embryonic stem cell:	n/a	chr11:63766653-63766667
14	MAZ	chr11:63766688-63767225	K562	blood:	n/a	chr11:63766914-63766924
15	POLR2A	chr11:63765773-63767156	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:63762807-63767952	GM12892	blood:	n/a	n/a
17	POLR2A	chr11:63766571-63767647	PFSK-1	brain:	n/a	n/a
18	CTCF	chr11:63766680-63766830	GM12866	blood:	n/a	n/a
19	MAX	chr11:63766666-63766901	K562	blood:	n/a	n/a
20	MTA3	chr11:63766598-63768072	GM12878	blood:	n/a	n/a
21	YY1	chr11:63766465-63766887	H1-hESC	embryonic stem cell:	n/a	n/a
22	CREB1	chr11:63766459-63767457	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr11:63766555-63766789	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:63766404-63766823	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:63766684-63766911	K562	blood:	n/a	n/a
26	MAX	chr11:63766605-63767287	MCF-7	breast:	n/a	chr11:63766914-63766924
27	POLR2A	chr11:63766096-63768007	GM12891	blood:	n/a	n/a
28	POLR2A	chr11:63765786-63767872	K562	blood:	n/a	n/a
29	CTCF	chr11:63766599-63766764	GM12891	blood:	n/a	n/a
30	POLR2A	chr11:63765423-63766821	A549	lung:	n/a	n/a
31	BACH1	chr11:63766437-63767186	H1-hESC	embryonic stem cell:	n/a	n/a
32	ZBTB7A	chr11:63766691-63767154	K562	blood:	n/a	chr11:63766693-63766700
33	POLR2A	chr11:63764879-63767892	PANC-1	pancreas:	n/a	n/a
34	RAD21	chr11:63766481-63766828	H1-hESC	embryonic stem cell:	n/a	chr11:63766653-63766667
35	SIN3A	chr11:63766513-63767316	H1-hESC	embryonic stem cell:	n/a	chr11:63766712-63766723
36	POLR2A	chr11:63766445-63768098	U87	brain:	n/a	n/a
37	POLR2A	chr11:63765262-63766967	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr11:63765685-63766954	K562	blood:	n/a	n/a
39	POLR2A	chr11:63765971-63767391	GM12891	blood:	n/a	n/a
40	EGR1	chr11:63766720-63767283	MCF-7	breast:	n/a	chr11:63766915-63766930 chr11:63767076-63767086 chr11:63767049-63767063 chr11:63766963-63766970 chr11:63766917-63766928 chr11:63766964-63766975 chr11:63766914-63766924 chr11:63766916-63766929
41	POLR2A	chr11:63765395-63766884	GM12878	blood:	n/a	n/a
42	POLR2A	chr11:63766642-63766771	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr11:63765179-63767745	GM12892	blood:	n/a	n/a
44	POLR2A	chr11:63766598-63768175	GM19193	blood:	n/a	n/a
45	POLR2A	chr11:63766435-63766888	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr11:63765335-63768311	GM12878	blood:	n/a	n/a
47	ELF1	chr11:63766563-63766804	K562	blood:	n/a	n/a
48	CTCF	chr11:63766660-63766810	GM06990	blood:	n/a	n/a
49	POLR2A	chr11:63766298-63768010	GM12891	blood:	n/a	n/a
50	CTCF	chr11:63766640-63766790	HMEC	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63765613..63767970-chr11:63932144..63934171,3	MCF-7	breast:
2	chr11:63740468..63742451-chr11:63765485..63768295,3	K562	blood:
3	chr11:63766001..63768236-chr11:63932252..63933831,2	MCF-7	breast:
4	chr11:63766704..63768642-chr11:63953085..63955113,2	MCF-7	breast:
5	chr11:63765241..63769899-chr11:63951624..63954334,5	MCF-7	breast:
6	chr11:63752288..63756029-chr11:63763681..63768717,11	MCF-7	breast:

Variant related genes	Relation type
MACROD1	TF binding region
OTUB1	TF binding region
ENSG00000167770	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000256100	Chromatin interaction
ENSG00000176340	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs167658	1.00[AMR][1000 genomes]
rs320150	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320155	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320157	1.00[AMR][1000 genomes]
rs320158	1.00[AMR][1000 genomes]
rs59114361	1.00[AMR][1000 genomes]
rs7113021	1.00[AMR][1000 genomes]
rs7117821	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1042075	chr11:63732454-63813164	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	esv29993	chr11:63738642-63864211	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv897640	chr11:63744152-63835611	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv897641	chr11:63744152-63844683	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv897642	chr11:63744152-63866959	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
15	nsv897643	chr11:63754986-63844683	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv897644	chr11:63754986-63849330	Bivalent Enhancer Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
17	nsv897645	chr11:63754986-63859751	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
18	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
19	nsv897647	chr11:63755961-63835611	Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
20	nsv897648	chr11:63761169-63774370	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
21	nsv897649	chr11:63761169-63844683	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
22	nsv897650	chr11:63761169-63849330	Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
23	nsv897651	chr11:63761169-63863405	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
24	nsv897652	chr11:63761169-63866959	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
25	nsv897653	chr11:63761169-63875456	Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63754800-63767600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:63755000-63769000	Weak transcription	Fetal Kidney	kidney
3	chr11:63755200-63775200	Weak transcription	Psoas Muscle	Psoas
4	chr11:63756200-63766800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:63756200-63769200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:63759200-63767400	Weak transcription	NHDF-Ad	bronchial
7	chr11:63759200-63774800	Weak transcription	HSMMtube	muscle
8	chr11:63759400-63767400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:63760600-63766800	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:63760600-63771800	Strong transcription	Dnd41	blood
11	chr11:63762600-63777800	Weak transcription	Hela-S3	cervix
12	chr11:63763600-63766800	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr11:63764000-63766800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:63764200-63768400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:63764400-63766800	ZNF genes & repeats	Thymus	Thymus
16	chr11:63764800-63766800	Genic enhancers	Esophagus	oesophagus
17	chr11:63764800-63772000	Weak transcription	HepG2	liver
18	chr11:63765000-63769400	Weak transcription	HSMM	muscle
19	chr11:63765000-63774200	Weak transcription	Brain Angular Gyrus	brain
20	chr11:63765200-63767800	Weak transcription	Brain Substantia Nigra	brain
21	chr11:63765400-63767000	Bivalent Enhancer	Fetal Stomach	stomach
22	chr11:63765400-63767200	Weak transcription	Osteobl	bone
23	chr11:63765400-63767600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:63765600-63766800	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:63765600-63767000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:63765600-63767200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr11:63765600-63767600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:63765800-63766800	Genic enhancers	Spleen	Spleen
29	chr11:63765800-63767000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr11:63765800-63767200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr11:63765800-63767400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:63765800-63767600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:63765800-63767600	Weak transcription	Aorta	Aorta
34	chr11:63765800-63767600	Weak transcription	Pancreas	Pancrea
35	chr11:63766000-63766800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:63766000-63767000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:63766000-63767000	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:63766000-63767000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr11:63766000-63767200	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr11:63766000-63767200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:63766000-63767200	Weak transcription	Liver	Liver
42	chr11:63766000-63767200	Weak transcription	Brain Anterior Caudate	brain
43	chr11:63766000-63767400	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr11:63766000-63767400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:63766000-63767400	Weak transcription	GM12878-XiMat	blood
46	chr11:63766000-63767600	Enhancers	Placenta Amnion	Placenta Amnion
47	chr11:63766000-63767800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:63766000-63767800	Bivalent Enhancer	Fetal Brain Male	brain
49	chr11:63766000-63768600	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr11:63766200-63766800	Enhancers	Primary T helper cells PMA-I stimulated	--

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