Variant report

Variant	rs2875719
Chromosome Location	chr11:63688575-63688576
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	ATF2	chr11:63688498-63688921	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr11:63688572-63688962	GM12878	blood:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
3	SIN3AK20	chr11:63688339-63688895	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr11:63688533-63688923	HepG2	liver:	n/a	chr11:63688748-63688767 chr11:63688750-63688762
5	POLR2A	chr11:63688473-63688631	HepG2	liver:	n/a	n/a
6	RAD21	chr11:63688567-63688986	HepG2	liver:	n/a	chr11:63688748-63688767 chr11:63688750-63688762
7	TBL1XR1	chr11:63688561-63688765	K562	blood:	n/a	n/a
8	MYC	chr11:63688465-63688920	K562	blood:	n/a	chr11:63688568-63688577 chr11:63688565-63688575
9	CTCF	chr11:63688503-63688953	HepG2	liver:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
10	ZBTB7A	chr11:63688347-63688886	K562	blood:	n/a	n/a
11	CTCF	chr11:63688561-63688845	A549	lung:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
12	MYC	chr11:63688553-63688843	K562	blood:	n/a	chr11:63688568-63688577 chr11:63688565-63688575
13	MYC	chr11:63688487-63688837	K562	blood:	n/a	chr11:63688568-63688577 chr11:63688565-63688575
14	NR2F2	chr11:63688567-63688943	K562	blood:	n/a	n/a
15	MAX	chr11:63688368-63688999	H1-hESC	embryonic stem cell:	n/a	chr11:63688568-63688577 chr11:63688565-63688575
16	CTCF	chr11:63688440-63688590	GM12867	blood:	n/a	n/a
17	TCF12	chr11:63688568-63688821	H1-hESC	embryonic stem cell:	n/a	n/a
18	YY1	chr11:63688458-63689130	H1-hESC	embryonic stem cell:	n/a	n/a
19	RCOR1	chr11:63688497-63688828	K562	blood:	n/a	n/a
20	MAX	chr11:63688365-63688933	K562	blood:	n/a	chr11:63688568-63688577 chr11:63688565-63688575
21	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
22	CBX3	chr11:63688573-63689000	K562	blood:	n/a	n/a
23	ZBTB7A	chr11:63688423-63688937	K562	blood:	n/a	n/a
24	ZNF143	chr11:63688484-63688930	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr11:63688516-63689038	H1-hESC	embryonic stem cell:	n/a	chr11:63688748-63688767 chr11:63688750-63688762
26	REST	chr11:63688558-63688815	K562	blood:	n/a	n/a
27	MXI1	chr11:63688396-63688939	H1-hESC	embryonic stem cell:	n/a	chr11:63688567-63688576 chr11:63688565-63688574
28	USF1	chr11:63688429-63688819	H1-hESC	embryonic stem cell:	n/a	n/a
29	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
30	SIN3A	chr11:63686290-63688939	H1-hESC	embryonic stem cell:	n/a	chr11:63687039-63687048 chr11:63687868-63687877 chr11:63687861-63687874 chr11:63686912-63686923 chr11:63686894-63686905 chr11:63688097-63688108
31	YY1	chr11:63688574-63688871	GM12878	blood:	n/a	n/a
32	SP4	chr11:63688519-63688955	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr11:63688500-63688965	H1-hESC	embryonic stem cell:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
34	ELF1	chr11:63688547-63688849	K562	blood:	n/a	n/a
35	MAX	chr11:63688364-63689010	H1-hESC	embryonic stem cell:	n/a	chr11:63688568-63688577 chr11:63688565-63688575
36	HDAC2	chr11:63688493-63688785	K562	blood:	n/a	n/a
37	CTCF	chr11:63688555-63688892	HepG2	liver:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
38	RAD21	chr11:63688477-63688901	H1-hESC	embryonic stem cell:	n/a	chr11:63688748-63688767 chr11:63688750-63688762
39	MAX	chr11:63688425-63688919	H1-hESC	embryonic stem cell:	n/a	chr11:63688568-63688577 chr11:63688565-63688575
40	CTCF	chr11:63688557-63688958	K562	blood:	n/a	chr11:63688750-63688768 chr11:63688751-63688767 chr11:63688745-63688766 chr11:63688752-63688765 chr11:63688752-63688765
41	CTBP2	chr11:63684917-63689153	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr11:63688543-63688953	HepG2	liver:	n/a	chr11:63688568-63688577 chr11:63688565-63688575
43	YY1	chr11:63688536-63689004	H1-hESC	embryonic stem cell:	n/a	n/a
44	MYBL2	chr11:63688544-63689082	HepG2	liver:	n/a	n/a
45	POLR2A	chr11:63684972-63689200	H1-hESC	embryonic stem cell:	n/a	n/a
46	RFX5	chr11:63688555-63688755	HepG2	liver:	n/a	n/a
47	TCF12	chr11:63688518-63688914	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr11:63688524-63688819	K562	blood:	n/a	chr11:63688568-63688577 chr11:63688565-63688575
49	ELF1	chr11:63688574-63688832	HepG2	liver:	n/a	n/a
50	RCOR1	chr11:63688563-63688890	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:63688531-63688581	A549	lung:	n/a
2	chr11:63688531-63688581	MCF-7	breast:	n/a
3	chr11:63688531-63688581	AG09309	skin:	n/a
4	chr11:63688531-63688581	HMEC	breast:	n/a
5	chr11:63688531-63688581	U87	brain:	n/a
6	chr11:63688531-63688581	GM12891	blood:	n/a
7	chr11:63688531-63688581	HCT-116	colon:	n/a
8	chr11:63688531-63688581	NH-A	brain:	n/a
9	chr11:63688531-63688581	Caco-2	colon:	n/a
10	chr11:63688531-63688581	HL-60	blood:	n/a
11	chr11:63688531-63688581	AG09319	gingival:	n/a
12	chr11:63688531-63688581	PFSK-1	brain:	n/a
13	chr11:63688531-63688581	BE2_C	brain:	n/a
14	chr11:63688531-63688581	SK-N-SH_RA	brain:	n/a
15	chr11:63688531-63688581	T-47D	breast:	n/a
16	chr11:63688531-63688581	AG04449	skin:	fetal
17	chr11:63688531-63688581	H1-hESC	embryonic stem cell:	embryo
18	chr11:63688531-63688581	PrEC	prostate:	n/a
19	chr11:63688531-63688581	PANC-1	pancreas:	n/a
20	chr11:63688531-63688581	K562	blood:	n/a
21	chr11:63688531-63688581	BJ	skin:	n/a
22	chr11:63688531-63688581	SK-N-MC	brain:	n/a
23	chr11:63688531-63688581	HPAEpiC	pulmonary alveolar:	n/a
24	chr11:63688531-63688581	ProgFib	skin:	n/a
25	chr11:63688531-63688581	NHBE	bronchial:	n/a
26	chr11:63688531-63688581	LNCaP	prostate:	n/a
27	chr11:63688531-63688581	Hepatocyte	liver:	n/a
28	chr11:63688531-63688581	AG10803	skin:	n/a
29	chr11:63688531-63688581	GM12878	blood:	n/a
30	chr11:63688531-63688581	HEEpiC	esophagus:	n/a
31	chr11:63688531-63688581	GM19239	blood:	n/a
32	chr11:63688531-63688581	IMR90	lung:	fetal
33	chr11:63688531-63688581	HUVEC	blood vessel:	n/a
34	chr11:63688531-63688581	HAEpiC	amniotic membrane:	n/a
35	chr11:63688531-63688581	AoSMC	blood vessel:	n/a
36	chr11:63688531-63688581	GM06990	blood:	n/a
37	chr11:63688531-63688581	SK-N-SH	brain:	n/a
38	chr11:63688531-63688581	ovcar-3	ovarian:	n/a
39	chr11:63688531-63688581	HRPEpiC	eye:	n/a
40	chr11:63688531-63688581	CMK	blood:	n/a
41	chr11:63688531-63688581	MCF10A-Er-Src	breast:	n/a
42	chr11:63688531-63688581	HCM	heart:	n/a
43	chr11:63688531-63688581	AG04450	lung:	fetal
44	chr11:63688531-63688581	HepG2	liver:	n/a
45	chr11:63688531-63688581	RPTEC	kidney:	n/a
46	chr11:63688531-63688581	NT2-D1	testis:	n/a
47	chr11:63688531-63688581	HNPCEpiC	eye:	n/a
48	chr11:63688531-63688581	SAEC	small airway:	n/a
49	chr11:63688531-63688581	HCF	heart:	n/a
50	chr11:63688531-63688581	ECC-1	luminal epithelium:	n/a

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

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

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10897461	1.00[AMR][1000 genomes]
rs1187867	0.85[AFR][1000 genomes]
rs1211783	0.82[AFR][1000 genomes]
rs161053	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3132752	0.82[AFR][1000 genomes]
rs320123	0.85[AFR][1000 genomes]
rs497037	0.85[AFR][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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63682600-63688800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr11:63683200-63688800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:63685400-63688600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:63685400-63688600	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr11:63685400-63688800	Enhancers	Fetal Lung	lung
6	chr11:63685400-63689000	Enhancers	Spleen	Spleen
7	chr11:63685600-63688600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr11:63685600-63688600	Enhancers	Pancreas	Pancrea
9	chr11:63685600-63688800	Enhancers	Fetal Thymus	thymus
10	chr11:63686000-63688800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:63686400-63688600	Enhancers	A549	lung
12	chr11:63687000-63689000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:63687200-63688600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
14	chr11:63687200-63688600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:63687200-63688800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:63687400-63688600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr11:63687400-63688600	Enhancers	Colon Smooth Muscle	Colon
18	chr11:63687400-63688800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:63687400-63688800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr11:63687400-63689600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:63687600-63688600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:63687600-63688600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:63687600-63688600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:63687600-63688600	Enhancers	Adipose Nuclei	Adipose
25	chr11:63687600-63688800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:63687600-63688800	Bivalent Enhancer	Fetal Stomach	stomach
27	chr11:63687600-63689400	Enhancers	Placenta	Placenta
28	chr11:63687800-63688600	Enhancers	Brain Hippocampus Middle	brain
29	chr11:63687800-63688800	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr11:63687800-63689000	Enhancers	Right Ventricle	heart
31	chr11:63687800-63689200	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr11:63687800-63689200	Enhancers	Fetal Heart	heart
33	chr11:63688000-63688600	Enhancers	Colonic Mucosa	Colon
34	chr11:63688000-63688600	Enhancers	Right Atrium	heart
35	chr11:63688000-63688800	Enhancers	Fetal Muscle Leg	muscle
36	chr11:63688000-63689000	Enhancers	Brain Anterior Caudate	brain
37	chr11:63688000-63689400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr11:63688000-63690200	Weak transcription	Esophagus	oesophagus
39	chr11:63688200-63688600	Weak transcription	Ovary	ovary
40	chr11:63688200-63688800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr11:63688200-63688800	Enhancers	K562	blood
42	chr11:63688200-63689000	Enhancers	Fetal Intestine Large	intestine
43	chr11:63688200-63689000	Flanking Active TSS	HepG2	liver
44	chr11:63688200-63689200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr11:63688200-63690600	Enhancers	Fetal Intestine Small	intestine
46	chr11:63688200-63691000	Enhancers	Duodenum Mucosa	Duodenum
47	chr11:63688400-63688600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr11:63688400-63688600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr11:63688400-63688600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:63688400-63688600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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