Variant report

Variant	rs13377315
Chromosome Location	chr11:63683468-63683469
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	RAD21	chr11:63682620-63684442	SK-N-SH	brain:	n/a	chr11:63682798-63682808 chr11:63684308-63684321 chr11:63684016-63684035 chr11:63682798-63682810 chr11:63683940-63683953 chr11:63682796-63682809 chr11:63683756-63683766
2	POLR2A	chr11:63683186-63683740	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr11:63683410-63684450	HepG2	liver:	n/a	chr11:63684190-63684201 chr11:63684423-63684437 chr11:63683751-63683762
4	POLR2A	chr11:63683377-63684284	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr11:63683302-63684289	MCF-7	breast:	n/a	n/a
6	MXI1	chr11:63682495-63686664	SK-N-SH	brain:	n/a	chr11:63684285-63684294
7	SMC3	chr11:63682501-63684951	SK-N-SH	brain:	n/a	chr11:63682772-63682779 chr11:63682956-63682966 chr11:63683582-63683592 chr11:63684771-63684785
8	POLR2A	chr11:63683215-63684084	SK-N-MC	brain:	n/a	n/a
9	CTCF	chr11:63683320-63684922	SK-N-SH	brain:	n/a	chr11:63683943-63683956 chr11:63684856-63684865 chr11:63684015-63684033 chr11:63684772-63684781
10	REST	chr11:63683413-63686259	H1-neurons	neurons:	n/a	chr11:63685888-63685898 chr11:63683931-63683944 chr11:63683635-63683648 chr11:63684423-63684436 chr11:63683688-63683701 chr11:63684253-63684266 chr11:63685102-63685115
11	POLR2A	chr11:63683340-63683571	HCT-116	colon:	n/a	n/a
12	CTCF	chr11:63683340-63683490	K562	blood:	n/a	n/a
13	POLR2A	chr11:63683466-63683568	K562	blood:	n/a	n/a
14	CREB1	chr11:63683235-63683487	A549	lung:	n/a	n/a
15	SIN3A	chr11:63683280-63686060	H1-hESC	embryonic stem cell:	n/a	chr11:63683937-63683950 chr11:63683933-63683944 chr11:63683931-63683944 chr11:63684423-63684436 chr11:63684305-63684316
16	POLR2A	chr11:63683185-63684938	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr11:63683420-63683570	AG09319	gingival:	n/a	n/a
18	POLR2A	chr11:63683464-63684251	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63683405..63684071-chr11:63712749..63713693,2	MCF-7	breast:
2	chr11:63683018..63687693-chr11:63704987..63708969,9	MCF-7	breast:
3	chr11:63683426..63687637-chr11:63739381..63744575,6	K562	blood:
4	chr11:63674570..63680304-chr11:63681753..63686803,9	MCF-7	breast:
5	chr11:63682847..63685544-chr11:63752668..63755278,2	MCF-7	breast:
6	chr11:63535779..63536323-chr11:63683262..63684232,2	MCF-7	breast:
7	chr11:63604824..63606885-chr11:63683071..63686195,3	K562	blood:
8	chr11:63605631..63608231-chr11:63683000..63685015,3	MCF-7	breast:
9	chr11:63682437..63684177-chr8:101963345..101965664,2	MCF-7	breast:
10	chr11:63682343..63688338-chr11:63931257..63935493,5	K562	blood:
11	chr11:63666544..63671236-chr11:63682476..63685803,4	MCF-7	breast:
12	chr11:63673944..63681438-chr11:63681488..63685981,13	K562	blood:
13	chr11:63579193..63582428-chr11:63682051..63685961,4	K562	blood:
14	chr11:63682242..63690244-chr11:63703955..63713214,18	K562	blood:
15	chr11:63683456..63690158-chr11:63704393..63714412,17	K562	blood:
16	chr11:63605131..63609420-chr11:63682910..63687369,4	MCF-7	breast:
17	chr11:63683295..63687930-chr11:63703819..63708534,6	MCF-7	breast:
18	chr11:63580176..63582428-chr11:63682563..63684680,2	K562	blood:

Variant related genes	Relation type
RCOR2	TF binding region
ENSG00000256100	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000255651	Chromatin interaction
ENSG00000176340	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000164924	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10897460	1.00[EUR][1000 genomes]
rs11231632	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11231634	1.00[EUR][1000 genomes]
rs11494059	0.96[AFR][1000 genomes]
rs12099085	1.00[EUR][1000 genomes]
rs12271959	1.00[EUR][1000 genomes]
rs12277386	1.00[EUR][1000 genomes]
rs12277838	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12288290	1.00[EUR][1000 genomes]
rs12291042	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12295918	1.00[EUR][1000 genomes]
rs320110	1.00[EUR][1000 genomes]
rs57219930	1.00[EUR][1000 genomes]
rs57864399	1.00[EUR][1000 genomes]
rs58678024	1.00[EUR][1000 genomes]
rs59423787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59642000	1.00[EUR][1000 genomes]
rs60107756	1.00[EUR][1000 genomes]
rs61475860	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7110433	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7929867	1.00[EUR][1000 genomes]
rs7933899	1.00[EUR][1000 genomes]
rs7948681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7952003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9630214	1.00[EUR][1000 genomes]
rs9630215	1.00[EUR][1000 genomes]
rs9888136	1.00[EUR][1000 genomes]
rs9888177	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	nsv897632	chr11:63670787-63688693	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv897633	chr11:63670787-63691049	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv897634	chr11:63670787-63698538	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv897635	chr11:63674926-63688693	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv897636	chr11:63676067-63688693	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv897637	chr11:63676067-63691049	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv897638	chr11:63676562-63688693	Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63671000-63683800	Weak transcription	NHDF-Ad	bronchial
2	chr11:63672400-63683800	Weak transcription	Psoas Muscle	Psoas
3	chr11:63676600-63684000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:63676600-63684000	Weak transcription	Aorta	Aorta
5	chr11:63677000-63683600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:63678400-63683600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:63678800-63683600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:63679200-63684000	Weak transcription	HSMMtube	muscle
9	chr11:63682400-63683600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:63682400-63683600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:63682400-63683600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:63682600-63683600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:63682600-63683600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
14	chr11:63682600-63683600	Flanking Active TSS	Fetal Brain Female	brain
15	chr11:63682600-63683600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:63682600-63683800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr11:63682600-63683800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr11:63682600-63683800	Enhancers	Adipose Nuclei	Adipose
19	chr11:63682600-63683800	Enhancers	Esophagus	oesophagus
20	chr11:63682600-63683800	Enhancers	Placenta	Placenta
21	chr11:63682600-63683800	Enhancers	Left Ventricle	heart
22	chr11:63682600-63684000	Enhancers	Gastric	stomach
23	chr11:63682600-63684200	Enhancers	Lung	lung
24	chr11:63682600-63684200	Bivalent Enhancer	Stomach Mucosa	stomach
25	chr11:63682600-63685800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr11:63682600-63688800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr11:63682800-63683600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:63682800-63683600	Flanking Active TSS	Fetal Stomach	stomach
29	chr11:63682800-63683600	Enhancers	Right Atrium	heart
30	chr11:63682800-63683800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr11:63682800-63684000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr11:63682800-63684400	Bivalent Enhancer	Spleen	Spleen
33	chr11:63682800-63685000	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr11:63682800-63685200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:63682800-63685200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:63682800-63685800	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr11:63682800-63687400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:63683000-63685000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:63683000-63685000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:63683000-63685600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:63683000-63685800	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr11:63683000-63686000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:63683000-63686000	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr11:63683000-63686000	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr11:63683000-63687200	Active TSS	H1 Cell Line	embryonic stem cell
46	chr11:63683200-63683600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:63683200-63683600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:63683200-63683600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr11:63683200-63683600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
50	chr11:63683200-63683600	Enhancers	Placenta Amnion	Placenta Amnion

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