Variant report

Variant	rs28484774
Chromosome Location	chr11:68276911-68276912
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr11:68276476-68276972	SK-N-SH	brain:	n/a	n/a
2	EP300	chr11:68275962-68277175	SK-N-SH	brain:	n/a	chr11:68276391-68276405 chr11:68276219-68276233
3	GATA3	chr11:68276383-68277128	SK-N-SH	brain:	n/a	chr11:68276484-68276491 chr11:68276393-68276403 chr11:68276437-68276447
4	PBX3	chr11:68276517-68277057	SK-N-SH	brain:	n/a	n/a
5	JUND	chr11:68276453-68277074	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr11:68276654-68276912	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr11:68276318-68277110	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr11:68276420-68277071	SK-N-SH	brain:	n/a	chr11:68276484-68276491 chr11:68276437-68276447
9	EP300	chr11:68276654-68276923	SK-N-SH_RA	brain:	n/a	n/a
10	TCF12	chr11:68276315-68277173	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr11:68276508-68276971	SK-N-SH	brain:	n/a	n/a
12	PBX3	chr11:68276508-68277080	SK-N-SH	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:68276883-68276933	SK-N-SH	brain:	n/a
2	chr11:68276883-68276933	HUVEC	blood vessel:	n/a
3	chr11:68276883-68276933	T-47D	breast:	n/a
4	chr11:68276883-68276933	HAEpiC	amniotic membrane:	n/a
5	chr11:68276883-68276933	IMR90	lung:	fetal
6	chr11:68276883-68276933	HMEC	breast:	n/a
7	chr11:68276883-68276933	ProgFib	skin:	n/a
8	chr11:68276883-68276933	GM06990	blood:	n/a
9	chr11:68276883-68276933	AG04449	skin:	fetal
10	chr11:68276883-68276933	HL-60	blood:	n/a
11	chr11:68276883-68276933	HCT-116	colon:	n/a
12	chr11:68276883-68276933	AG04450	lung:	fetal
13	chr11:68276883-68276933	GM12878	blood:	n/a
14	chr11:68276883-68276933	HCM	heart:	n/a
15	chr11:68276883-68276933	HRPEpiC	eye:	n/a
16	chr11:68276883-68276933	NT2-D1	testis:	n/a
17	chr11:68276883-68276933	HRE	kidney:	n/a
18	chr11:68276883-68276933	HCF	heart:	n/a
19	chr11:68276883-68276933	HPAEpiC	pulmonary alveolar:	n/a
20	chr11:68276883-68276933	PFSK-1	brain:	n/a
21	chr11:68276883-68276933	AG10803	skin:	n/a
22	chr11:68276883-68276933	LNCaP	prostate:	n/a
23	chr11:68276883-68276933	ovcar-3	ovarian:	n/a
24	chr11:68276883-68276933	U87	brain:	n/a
25	chr11:68276883-68276933	HIPEpiC	eye:	n/a
26	chr11:68276883-68276933	GM19239	blood:	n/a
27	chr11:68276883-68276933	CMK	blood:	n/a
28	chr11:68276883-68276933	HepG2	liver:	n/a
29	chr11:68276883-68276933	SK-N-MC	brain:	n/a
30	chr11:68276883-68276933	PrEC	prostate:	n/a
31	chr11:68276883-68276933	NHBE	bronchial:	n/a
32	chr11:68276883-68276933	NB4	blood:	n/a
33	chr11:68276883-68276933	ECC-1	luminal epithelium:	n/a
34	chr11:68276883-68276933	NHDF-neo	bronchial:	n/a
35	chr11:68276883-68276933	BJ	skin:	n/a
36	chr11:68276883-68276933	HEK293	kidney:	embryo
37	chr11:68276883-68276933	HNPCEpiC	eye:	n/a
38	chr11:68276883-68276933	NH-A	brain:	n/a
39	chr11:68276883-68276933	MCF10A-Er-Src	breast:	n/a
40	chr11:68276883-68276933	GM12891	blood:	n/a
41	chr11:68276883-68276933	GM12892	blood:	n/a
42	chr11:68276883-68276933	HCPEpiC	choroid plexus:	n/a
43	chr11:68276883-68276933	Caco-2	colon:	n/a
44	chr11:68276883-68276933	AG09309	skin:	n/a
45	chr11:68276883-68276933	AG09319	gingival:	n/a
46	chr11:68276883-68276933	PANC-1	pancreas:	n/a
47	chr11:68276883-68276933	AoSMC	blood vessel:	n/a
48	chr11:68276883-68276933	HRCEpiC	kidney:	n/a
49	chr11:68276883-68276933	SKMC	muscle:	n/a
50	chr11:68276883-68276933	RPTEC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:68274527..68278088-chr11:68291601..68295051,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212093	TF binding region
ENSG00000222339	TF binding region
ENSG00000212093	CpG island
ENSG00000222339	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12270231	1.00[AMR][1000 genomes]
rs12286536	0.80[AFR][1000 genomes]
rs2186937	0.92[AFR][1000 genomes]
rs55975204	0.92[AFR][1000 genomes]
rs7126388	1.00[AMR][1000 genomes]
rs7945057	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1792339	chr11:68199008-68299226	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv1803199	chr11:68199008-68299226	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1842405	chr11:68199008-68299226	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68238600-68287800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:68256600-68287200	Weak transcription	NHEK	skin
3	chr11:68261600-68278000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr11:68262200-68277000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr11:68265200-68302600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:68265600-68280000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:68266200-68277600	Weak transcription	HMEC	breast
8	chr11:68266200-68279000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:68266400-68278400	Enhancers	Rectal Smooth Muscle	rectum
10	chr11:68267000-68278200	Weak transcription	Hela-S3	cervix
11	chr11:68267000-68280000	Weak transcription	Thymus	Thymus
12	chr11:68267200-68283000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:68267200-68287800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:68267400-68287000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:68268000-68279400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr11:68268600-68277800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:68268600-68290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:68268600-68303800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:68271000-68277000	Enhancers	Osteobl	bone
20	chr11:68271000-68294600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:68271200-68279600	Weak transcription	Placenta	Placenta
22	chr11:68271200-68280400	Weak transcription	Fetal Intestine Large	intestine
23	chr11:68271200-68281600	Weak transcription	Fetal Stomach	stomach
24	chr11:68271200-68287400	Weak transcription	Spleen	Spleen
25	chr11:68271200-68287600	Weak transcription	Colonic Mucosa	Colon
26	chr11:68271200-68289000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr11:68271600-68277600	Weak transcription	Dnd41	blood
28	chr11:68271600-68280000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr11:68271600-68280400	Weak transcription	Fetal Muscle Leg	muscle
30	chr11:68271600-68280400	Weak transcription	Lung	lung
31	chr11:68271600-68280400	Weak transcription	HUVEC	blood vessel
32	chr11:68271600-68280800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:68271600-68287200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:68271600-68287200	Weak transcription	Brain Germinal Matrix	brain
35	chr11:68272200-68283000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:68272400-68280200	Weak transcription	Gastric	stomach
37	chr11:68272400-68280400	Weak transcription	Pancreas	Pancrea
38	chr11:68272400-68287200	Weak transcription	Esophagus	oesophagus
39	chr11:68272400-68287800	Weak transcription	Aorta	Aorta
40	chr11:68272400-68289400	Weak transcription	NHLF	lung
41	chr11:68272400-68291000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:68272600-68284200	Weak transcription	A549	lung
43	chr11:68272800-68280400	Weak transcription	Liver	Liver
44	chr11:68273400-68277000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:68273800-68283000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr11:68273800-68288600	Weak transcription	HSMMtube	muscle
47	chr11:68274200-68277000	Enhancers	Fetal Lung	lung
48	chr11:68274400-68281400	Weak transcription	GM12878-XiMat	blood
49	chr11:68274400-68296000	Weak transcription	Stomach Mucosa	stomach
50	chr11:68274600-68277200	Weak transcription	Psoas Muscle	Psoas

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