Variant report

Variant	rs4754884
Chromosome Location	chr11:102702263-102702264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:143)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:143 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:102702077-102702758	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr11:102702160-102702310	WI-38	lung:	n/a	n/a
3	CTCF	chr11:102702180-102702330	BJ	skin:	n/a	n/a
4	CTCF	chr11:102702140-102702290	HVMF	connective:	n/a	n/a
5	CTCF	chr11:102702158-102702403	Pancreas_OC	pancreas:	n/a	n/a
6	ARID3A	chr11:102702187-102702333	HepG2	liver:	n/a	n/a
7	CTCF	chr11:102702091-102702438	A549	lung:	n/a	n/a
8	CTCF	chr11:102702160-102702310	GM12869	blood:	n/a	n/a
9	CTCF	chr11:102702171-102702389	GM19240	blood:	n/a	n/a
10	CTCF	chr11:102702200-102702350	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr11:102702200-102702350	GM12864	blood:	n/a	n/a
12	CTCF	chr11:102702220-102702370	GM12874	blood:	n/a	n/a
13	CTCF	chr11:102702200-102702350	AG04449	skin:	n/a	n/a
14	RAD21	chr11:102702171-102702352	K562	blood:	n/a	n/a
15	CTCF	chr11:102702150-102702404	HepG2	liver:	n/a	n/a
16	CTCF	chr11:102702139-102702389	K562	blood:	n/a	n/a
17	CTCF	chr11:102702116-102702461	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr11:102702202-102702392	GM10248	blood:	n/a	n/a
19	CTCF	chr11:102702200-102702350	HEEpiC	esophagus:	n/a	n/a
20	CTCF	chr11:102702220-102702370	GM12866	blood:	n/a	n/a
21	ZNF143	chr11:102702138-102702428	GM12878	blood:	n/a	n/a
22	CTCF	chr11:102702178-102702393	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr11:102702180-102702330	HRE	kidney:	n/a	n/a
24	CTCF	chr11:102702196-102702375	GM12892	blood:	n/a	n/a
25	CTCF	chr11:102702240-102702390	NHEK	skin:	n/a	n/a
26	RAD21	chr11:102702105-102702490	IMR90	lung:	n/a	n/a
27	TBP	chr11:102702138-102702392	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr11:102702200-102702350	HRE	kidney:	n/a	n/a
29	CTCF	chr11:102702200-102702350	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr11:102702120-102702270	HVMF	connective:	n/a	n/a
31	RAD21	chr11:102702157-102702426	HepG2	liver:	n/a	n/a
32	CTCF	chr11:102702160-102702310	AG04450	lung:	n/a	n/a
33	CTCF	chr11:102702180-102702330	SAEC	small airway:	n/a	n/a
34	CTCF	chr11:102702240-102702390	GM12873	blood:	n/a	n/a
35	RAD21	chr11:102702143-102702444	HepG2	liver:	n/a	n/a
36	CTCF	chr11:102702200-102702350	GM12870	blood:	n/a	n/a
37	CTCF	chr11:102702110-102702455	HepG2	liver:	n/a	n/a
38	CTCF	chr11:102702200-102702350	GM12871	blood:	n/a	n/a
39	CTCF	chr11:102702200-102702350	GM12873	blood:	n/a	n/a
40	CTCF	chr11:102702220-102702370	HA-sp	spinal cord:	n/a	n/a
41	RAD21	chr11:102702122-102702534	A549	lung:	n/a	n/a
42	CTCF	chr11:102702097-102702475	A549	lung:	n/a	n/a
43	CTCF	chr11:102702180-102702330	HA-sp	spinal cord:	n/a	n/a
44	RAD21	chr11:102702160-102702325	K562	blood:	n/a	n/a
45	CEBPB	chr11:102702146-102702374	H1-hESC	embryonic stem cell:	n/a	n/a
46	RAD21	chr11:102702107-102702493	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr11:102702189-102702336	GM20000	blood:	n/a	n/a
48	CTCF	chr11:102702097-102702452	IMR90	lung:	n/a	n/a
49	CTCF	chr11:102702180-102702330	GM12875	blood:	n/a	n/a
50	CTCF	chr11:102702180-102702330	HPF	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-817J15.3.1-4	chr11:102702199-102703637	NONHSAT023893
2	lnc-RP11-817J15.3.1-4	chr11:102702238-102703385	NONHSAT140036
3	lnc-RP11-817J15.3.1-4	chr11:102702238-102702264	NONHSAT023894

No data

Variant related genes	Relation type
WTAPP1	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1010698	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10791596	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10895364	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10895365	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10895366	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11225434	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1144396	0.94[CHB][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1144397	0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs12792871	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12801529	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12804136	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2097248	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2155013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2212637	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs502174	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs520540	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs526215	0.82[EUR][1000 genomes]
rs565082	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs573521	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs575027	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs591058	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs595840	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602128	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs617819	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs632478	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs633962	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs635746	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639752	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs645419	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6590993	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6590994	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs666734	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs678815	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs679620	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7117013	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7118731	0.87[ASN][1000 genomes]
rs7126392	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs756544	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7926920	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7946057	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898335	chr11:102682285-102866158	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102700600-102702400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr11:102700600-102702600	Weak transcription	Right Atrium	heart
3	chr11:102700600-102707200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:102700800-102704200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:102701200-102706600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:102701400-102704200	Weak transcription	HMEC	breast
7	chr11:102701600-102702400	Weak transcription	Stomach Mucosa	stomach
8	chr11:102701600-102706600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:102701800-102706600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:102701800-102706600	Weak transcription	NHEK	skin
11	chr11:102702000-102702600	Enhancers	Placenta	Placenta
12	chr11:102702200-102702400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:102702200-102702400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:102702200-102702400	Active TSS	Adipose Nuclei	Adipose
15	chr11:102702200-102702400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
16	chr11:102702200-102702400	Active TSS	Fetal Muscle Leg	muscle
17	chr11:102702200-102702400	Bivalent/Poised TSS	HUVEC	blood vessel
18	chr11:102702200-102702600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:102702200-102702600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:102702200-102702600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:102702200-102702600	Active TSS	Duodenum Mucosa	Duodenum
22	chr11:102702200-102702600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr11:102702200-102702600	Active TSS	Fetal Intestine Small	intestine
24	chr11:102702200-102702600	Active TSS	HepG2	liver
25	chr11:102702200-102702600	Active TSS	Osteobl	bone
26	chr11:102702200-102702800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:102702200-102702800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:102702200-102702800	Bivalent/Poised TSS	Fetal Stomach	stomach
29	chr11:102702200-102702800	Active TSS	Gastric	stomach
30	chr11:102702200-102702800	Enhancers	Pancreas	Pancrea
31	chr11:102702200-102703000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:102702200-102703000	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr11:102702200-102703000	Active TSS	NHDF-Ad	bronchial
34	chr11:102702200-102703000	Active TSS	NHLF	lung
35	chr11:102702200-102703200	Active TSS	Colon Smooth Muscle	Colon
36	chr11:102702200-102703200	Active TSS	Stomach Smooth Muscle	stomach
37	chr11:102702200-102703400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
38	chr11:102702200-102703400	Active TSS	Fetal Intestine Large	intestine

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