Variant report

Variant	rs7948611
Chromosome Location	chr11:63688885-63688886
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	RAD21	chr11:63688615-63689012	A549	lung:	n/a	chr11:63688748-63688767 chr11:63688750-63688762
2	CTCF	chr11:63688600-63688912	H1-hESC	embryonic stem cell:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
3	CTCF	chr11:63688627-63688964	Spleen_OC	spleen:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
4	GTF2F1	chr11:63688701-63688925	H1-hESC	embryonic stem cell:	n/a	n/a
5	SMC3	chr11:63688584-63688912	K562	blood:	n/a	chr11:63688752-63688766
6	CTCF	chr11:63688656-63688905	GM13977	blood:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
7	ATF2	chr11:63688498-63688921	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr11:63688572-63688962	GM12878	blood:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
9	SIN3AK20	chr11:63688339-63688895	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr11:63688629-63688903	Fibrobl	skin:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
11	POLR2A	chr11:63688645-63688889	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr11:63688634-63688937	GM19239	blood:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
13	JUND	chr11:63688585-63688886	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr11:63688533-63688923	HepG2	liver:	n/a	chr11:63688748-63688767 chr11:63688750-63688762
15	CTCF	chr11:63688615-63688905	GM12891	blood:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
16	CTCF	chr11:63688780-63688930	HCM	heart:	n/a	n/a
17	RAD21	chr11:63688567-63688986	HepG2	liver:	n/a	chr11:63688748-63688767 chr11:63688750-63688762
18	ZNF143	chr11:63688593-63688935	K562	blood:	n/a	n/a
19	MYC	chr11:63688465-63688920	K562	blood:	n/a	chr11:63688568-63688577 chr11:63688565-63688575
20	CTCF	chr11:63688618-63688939	A549	lung:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
21	MYC	chr11:63688603-63688903	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr11:63688503-63688953	HepG2	liver:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
23	ZBTB7A	chr11:63688347-63688886	K562	blood:	n/a	n/a
24	CTCF	chr11:63688589-63688941	K562	blood:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
25	POLR2A	chr11:63688634-63689011	HepG2	liver:	n/a	n/a
26	NR2F2	chr11:63688567-63688943	K562	blood:	n/a	n/a
27	MAX	chr11:63688368-63688999	H1-hESC	embryonic stem cell:	n/a	chr11:63688568-63688577 chr11:63688565-63688575
28	YY1	chr11:63688458-63689130	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr11:63688365-63688933	K562	blood:	n/a	chr11:63688568-63688577 chr11:63688565-63688575
30	MAX	chr11:63686473-63689025	HepG2	liver:	n/a	chr11:63686891-63686901 chr11:63687038-63687048 chr11:63687037-63687048 chr11:63687038-63687047 chr11:63687036-63687049 chr11:63686582-63686591 chr11:63687038-63687048 chr11:63687858-63687868 chr11:63688205-63688215 chr11:63687037-63687048 chr11:63688568-63688577 chr11:63687033-63687052 chr11:63687036-63687049 chr11:63687037-63687048 chr11:63688565-63688575 chr11:63688023-63688033
31	CTCF	chr11:63688586-63688951	GM12892	blood:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
32	RUNX3	chr11:63688584-63688981	GM12878	blood:	n/a	n/a
33	CBX3	chr11:63688573-63689000	K562	blood:	n/a	n/a
34	CTCF	chr11:63688740-63688890	HA-sp	spinal cord:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
35	ZBTB7A	chr11:63688423-63688937	K562	blood:	n/a	n/a
36	CTCF	chr11:63688760-63688910	HAc	cerebellar:	n/a	n/a
37	RFX5	chr11:63688600-63689125	H1-hESC	embryonic stem cell:	n/a	n/a
38	ZNF143	chr11:63688484-63688930	H1-hESC	embryonic stem cell:	n/a	n/a
39	RUNX3	chr11:63688591-63688922	GM12878	blood:	n/a	n/a
40	RAD21	chr11:63688600-63688908	IMR90	lung:	n/a	chr11:63688748-63688767 chr11:63688750-63688762
41	RAD21	chr11:63688516-63689038	H1-hESC	embryonic stem cell:	n/a	chr11:63688748-63688767 chr11:63688750-63688762
42	CTCF	chr11:63688646-63688904	GM10266	blood:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
43	CTCF	chr11:63688780-63688930	NHLF	lung:	n/a	n/a
44	CTCF	chr11:63688588-63689046	K562	blood:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
45	CTCF	chr11:63688612-63688935	GM19238	blood:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
46	CTCF	chr11:63688589-63688922	K562	blood:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
47	MXI1	chr11:63688396-63688939	H1-hESC	embryonic stem cell:	n/a	chr11:63688567-63688576 chr11:63688565-63688574
48	CTCF	chr11:63688623-63688929	GM12878	blood:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
49	CTCF	chr11:63688487-63689047	H1-hESC	embryonic stem cell:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
50	POLR2A	chr11:63688625-63688991	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63688849..63692176-chr11:63705277..63707600,3	MCF-7	breast:
2	chr11:63684287..63687288-chr11:63687997..63690522,4	MCF-7	breast:
3	chr11:63687365..63689977-chr11:63690538..63692122,2	K562	blood:
4	chr11:63686655..63689035-chr11:63752161..63754305,2	K562	blood:
5	chr11:63535119..63536110-chr11:63688278..63689081,3	K562	blood:
6	chr11:63687502..63689214-chr11:63695496..63697632,2	MCF-7	breast:
7	chr11:63686068..63688913-chr11:63752506..63754962,2	MCF-7	breast:
8	chr11:63687862..63689839-chr11:63702053..63703674,2	MCF-7	breast:
9	chr11:63682242..63690244-chr11:63703955..63713214,18	K562	blood:
10	chr11:63683456..63690158-chr11:63704393..63714412,17	K562	blood:

Variant related genes	Relation type
RCOR2	TF binding region
ENSG00000167771	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000167770	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs320115	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57859020	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
10	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
11	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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63685400-63689000	Enhancers	Spleen	Spleen
2	chr11:63687000-63689000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:63687400-63689600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:63687600-63689400	Enhancers	Placenta	Placenta
5	chr11:63687800-63689000	Enhancers	Right Ventricle	heart
6	chr11:63687800-63689200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:63687800-63689200	Enhancers	Fetal Heart	heart
8	chr11:63688000-63689000	Enhancers	Brain Anterior Caudate	brain
9	chr11:63688000-63689400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr11:63688000-63690200	Weak transcription	Esophagus	oesophagus
11	chr11:63688200-63689000	Enhancers	Fetal Intestine Large	intestine
12	chr11:63688200-63689000	Flanking Active TSS	HepG2	liver
13	chr11:63688200-63689200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr11:63688200-63690600	Enhancers	Fetal Intestine Small	intestine
15	chr11:63688200-63691000	Enhancers	Duodenum Mucosa	Duodenum
16	chr11:63688400-63689000	Enhancers	Brain Germinal Matrix	brain
17	chr11:63688400-63689200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:63688400-63689200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:63688400-63689200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr11:63688600-63689000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr11:63688600-63689000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:63688600-63689000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:63688600-63689200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr11:63688600-63689200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:63688600-63690400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:63688800-63689000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr11:63688800-63689000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr11:63688800-63689000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr11:63688800-63689000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr11:63688800-63689000	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr11:63688800-63689200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr11:63688800-63689200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:63688800-63689200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:63688800-63690600	Weak transcription	K562	blood
35	chr11:63688800-63692200	Weak transcription	Ovary	ovary

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