Variant report

Variant	rs908597
Chromosome Location	chr11:47601741-47601742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr11:47598483-47602649	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:47601534-47602550	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr11:47598733-47601797	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:47601700-47601750	PrEC	prostate:	n/a
2	chr11:47601700-47601750	PANC-1	pancreas:	n/a
3	chr11:47601700-47601750	GM06990	blood:	n/a
4	chr11:47601700-47601750	AoSMC	blood vessel:	n/a
5	chr11:47601700-47601750	SK-N-MC	brain:	n/a
6	chr11:47601700-47601750	T-47D	breast:	n/a
7	chr11:47601700-47601750	LNCaP	prostate:	n/a
8	chr11:47601700-47601750	ECC-1	luminal epithelium:	n/a
9	chr11:47601700-47601750	U87	brain:	n/a
10	chr11:47601700-47601750	GM12892	blood:	n/a
11	chr11:47601700-47601750	Hepatocyte	liver:	n/a
12	chr11:47601700-47601750	MCF10A-Er-Src	breast:	n/a
13	chr11:47601700-47601750	SK-N-SH_RA	brain:	n/a
14	chr11:47601700-47601750	SKMC	muscle:	n/a
15	chr11:47601700-47601750	HCF	heart:	n/a
16	chr11:47601700-47601750	GM12878	blood:	n/a
17	chr11:47601700-47601750	HEK293	kidney:	embryo
18	chr11:47601700-47601750	AG10803	skin:	n/a
19	chr11:47601700-47601750	CMK	blood:	n/a
20	chr11:47601700-47601750	HEEpiC	esophagus:	n/a
21	chr11:47601700-47601750	SAEC	small airway:	n/a
22	chr11:47601700-47601750	A549	lung:	n/a
23	chr11:47601700-47601750	AG04450	lung:	fetal
24	chr11:47601700-47601750	BJ	skin:	n/a
25	chr11:47601700-47601750	HUVEC	blood vessel:	n/a
26	chr11:47601700-47601750	AG09309	skin:	n/a
27	chr11:47601700-47601750	HMEC	breast:	n/a
28	chr11:47601700-47601750	HNPCEpiC	eye:	n/a
29	chr11:47601700-47601750	HL-60	blood:	n/a
30	chr11:47601700-47601750	HPAEpiC	pulmonary alveolar:	n/a
31	chr11:47601700-47601750	HCPEpiC	choroid plexus:	n/a
32	chr11:47601700-47601750	H1-hESC	embryonic stem cell:	embryo
33	chr11:47601700-47601750	ovcar-3	ovarian:	n/a
34	chr11:47601700-47601750	GM19239	blood:	n/a
35	chr11:47601700-47601750	Caco-2	colon:	n/a
36	chr11:47601700-47601750	NT2-D1	testis:	n/a
37	chr11:47601700-47601750	RPTEC	kidney:	n/a
38	chr11:47601700-47601750	AG09319	gingival:	n/a
39	chr11:47601700-47601750	HRE	kidney:	n/a
40	chr11:47601700-47601750	MCF-7	breast:	n/a
41	chr11:47601700-47601750	IMR90	lung:	fetal
42	chr11:47601700-47601750	NB4	blood:	n/a
43	chr11:47601700-47601750	HepG2	liver:	n/a
44	chr11:47601700-47601750	NHDF-neo	bronchial:	n/a
45	chr11:47601700-47601750	NH-A	brain:	n/a
46	chr11:47601700-47601750	GM12891	blood:	n/a
47	chr11:47601700-47601750	HCT-116	colon:	n/a
48	chr11:47601700-47601750	NHBE	bronchial:	n/a
49	chr11:47601700-47601750	HRCEpiC	kidney:	n/a
50	chr11:47601700-47601750	Jurkat	blood:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47572291..47576392-chr11:47598056..47603377,7	K562	blood:
2	chr11:47599594..47601938-chr11:47869864..47871887,2	K562	blood:
3	chr11:47597275..47600063-chr11:47600255..47602444,2	MCF-7	breast:
4	chr11:47599184..47601918-chr11:47661794..47664226,4	MCF-7	breast:
5	chr11:47597915..47601799-chr11:47868286..47871887,4	K562	blood:
6	chr11:47585423..47588969-chr11:47597747..47604797,13	K562	blood:
7	chr11:47426650..47429548-chr11:47599829..47602825,2	MCF-7	breast:
8	chr11:47572538..47574748-chr11:47599210..47602112,3	MCF-7	breast:
9	chr11:47573178..47576577-chr11:47600513..47602811,3	K562	blood:

No data

Variant related genes	Relation type
KBTBD4	TF binding region
NDUFS3	TF binding region
RNU5E-10P	TF binding region
KBTBD4	CpG island
RNU5E-10P	CpG island
NDUFS3	CpG island
ENSG00000030066	Chromatin interaction
ENSG00000109919	Chromatin interaction
ENSG00000200376	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000231880	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000110536	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11039213	1.00[AMR][1000 genomes]
rs11039229	1.00[AMR][1000 genomes]
rs11039291	0.83[AFR][1000 genomes]
rs12099130	1.00[ASW][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12099427	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2010519	1.00[AMR][1000 genomes]
rs2053978	1.00[AMR][1000 genomes]
rs2176403	1.00[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34037785	1.00[AMR][1000 genomes]
rs35976340	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56866638	1.00[AMR][1000 genomes]
rs56948110	1.00[AMR][1000 genomes]
rs57572703	1.00[AMR][1000 genomes]
rs58880275	1.00[AMR][1000 genomes]
rs60580032	1.00[AMR][1000 genomes]
rs7123107	1.00[AMR][1000 genomes]
rs7950077	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs896814	1.00[ASW][hapmap];0.94[LWK][hapmap];0.89[MKK][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer 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
2	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47599600-47601800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr11:47599800-47601800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:47599800-47601800	Active TSS	Left Ventricle	heart
4	chr11:47599800-47601800	Active TSS	Right Ventricle	heart
5	chr11:47599800-47602000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr11:47599800-47602000	Active TSS	Psoas Muscle	Psoas
7	chr11:47600000-47601800	Active TSS	HSMMtube	muscle
8	chr11:47600000-47602000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr11:47600600-47602200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
10	chr11:47600800-47601800	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr11:47600800-47601800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr11:47600800-47601800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr11:47600800-47601800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr11:47600800-47602000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr11:47600800-47602000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr11:47600800-47602000	Transcr. at gene 5' and 3'	Fetal Lung	lung
17	chr11:47600800-47602600	Transcr. at gene 5' and 3'	Dnd41	blood
18	chr11:47601000-47601800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr11:47601000-47601800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr11:47601000-47601800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr11:47601000-47601800	Flanking Active TSS	Liver	Liver
22	chr11:47601000-47601800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:47601000-47601800	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr11:47601000-47601800	Active TSS	Right Atrium	heart
25	chr11:47601000-47601800	Flanking Active TSS	Hela-S3	cervix
26	chr11:47601000-47601800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr11:47601000-47601800	Flanking Active TSS	NH-A	brain
28	chr11:47601000-47602000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr11:47601000-47602000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:47601000-47602000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:47601000-47602000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:47601000-47602000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr11:47601000-47602000	Flanking Active TSS	HUVEC	blood vessel
34	chr11:47601000-47602000	Flanking Active TSS	Osteobl	bone
35	chr11:47601000-47602400	Transcr. at gene 5' and 3'	NHLF	lung
36	chr11:47601200-47601800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:47601200-47601800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr11:47601200-47601800	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr11:47601200-47601800	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr11:47601200-47601800	Flanking Active TSS	Colonic Mucosa	Colon
41	chr11:47601200-47601800	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr11:47601200-47601800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr11:47601200-47601800	Flanking Active TSS	Fetal Brain Female	brain
44	chr11:47601200-47601800	Flanking Active TSS	Fetal Kidney	kidney
45	chr11:47601200-47601800	Flanking Active TSS	Fetal Stomach	stomach
46	chr11:47601200-47601800	Flanking Active TSS	Fetal Thymus	thymus
47	chr11:47601200-47602000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr11:47601200-47602000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr11:47601200-47602000	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr11:47601200-47602000	Enhancers	Placenta Amnion	Placenta Amnion

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