Variant report

Variant	rs4910165
Chromosome Location	chr11:10674044-10674045
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:10673139-10674070	HCT-116	colon:	n/a	chr11:10673554-10673564 chr11:10673832-10673841
2	MAX	chr11:10673093-10674150	HCT-116	colon:	n/a	chr11:10673554-10673564 chr11:10673832-10673841

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:10673997-10674047	BJ	skin:	n/a
2	chr11:10673997-10674047	HIPEpiC	eye:	n/a
3	chr11:10673997-10674047	HRE	kidney:	n/a
4	chr11:10673997-10674047	A549	lung:	n/a
5	chr11:10673997-10674047	GM12892	blood:	n/a
6	chr11:10673997-10674047	HepG2	liver:	n/a
7	chr11:10673997-10674047	Caco-2	colon:	n/a
8	chr11:10673997-10674047	PANC-1	pancreas:	n/a
9	chr11:10673997-10674047	AG04449	skin:	fetal
10	chr11:10673997-10674047	T-47D	breast:	n/a
11	chr11:10673997-10674047	MCF-7	breast:	n/a
12	chr11:10673997-10674047	NB4	blood:	n/a
13	chr11:10673997-10674047	ProgFib	skin:	n/a
14	chr11:10673997-10674047	MCF10A-Er-Src	breast:	n/a
15	chr11:10673997-10674047	GM06990	blood:	n/a
16	chr11:10673997-10674047	Hela-S3	cervix:	n/a
17	chr11:10673997-10674047	HCM	heart:	n/a
18	chr11:10673997-10674047	NH-A	brain:	n/a
19	chr11:10673997-10674047	SK-N-SH_RA	brain:	n/a
20	chr11:10673997-10674047	IMR90	lung:	fetal
21	chr11:10673997-10674047	K562	blood:	n/a
22	chr11:10673997-10674047	HPAEpiC	pulmonary alveolar:	n/a
23	chr11:10673997-10674047	U87	brain:	n/a
24	chr11:10673997-10674047	ECC-1	luminal epithelium:	n/a
25	chr11:10673997-10674047	PFSK-1	brain:	n/a
26	chr11:10673997-10674047	Jurkat	blood:	n/a
27	chr11:10673997-10674047	BE2_C	brain:	n/a
28	chr11:10673997-10674047	AG09319	gingival:	n/a
29	chr11:10673997-10674047	AG10803	skin:	n/a
30	chr11:10673997-10674047	H1-hESC	embryonic stem cell:	embryo
31	chr11:10673997-10674047	NHDF-neo	bronchial:	n/a
32	chr11:10673997-10674047	HL-60	blood:	n/a
33	chr11:10673997-10674047	HMEC	breast:	n/a
34	chr11:10673997-10674047	RPTEC	kidney:	n/a
35	chr11:10673997-10674047	AG09309	skin:	n/a
36	chr11:10673997-10674047	ovcar-3	ovarian:	n/a
37	chr11:10673997-10674047	PrEC	prostate:	n/a
38	chr11:10673997-10674047	SK-N-MC	brain:	n/a
39	chr11:10673997-10674047	HNPCEpiC	eye:	n/a
40	chr11:10673997-10674047	NHBE	bronchial:	n/a
41	chr11:10673997-10674047	GM19239	blood:	n/a
42	chr11:10673997-10674047	SAEC	small airway:	n/a
43	chr11:10673997-10674047	HUVEC	blood vessel:	n/a
44	chr11:10673997-10674047	AG04450	lung:	fetal
45	chr11:10673997-10674047	HEEpiC	esophagus:	n/a
46	chr11:10673997-10674047	HAEpiC	amniotic membrane:	n/a
47	chr11:10673997-10674047	HRPEpiC	eye:	n/a
48	chr11:10673997-10674047	HEK293	kidney:	embryo
49	chr11:10673997-10674047	NT2-D1	testis:	n/a
50	chr11:10673997-10674047	HCT-116	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10322610..10325546-chr11:10673380..10676333,2	K562	blood:
2	chr11:10560102..10563921-chr11:10672313..10677222,4	MCF-7	breast:

No data

Variant related genes	Relation type
MRVI1	TF binding region
MRVI1	CpG island
ENSG00000177112	Chromatin interaction
ENSG00000254554	Chromatin interaction
ENSG00000110315	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1035691	1.00[JPT][hapmap]
rs10840453	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840457	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042902	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11042906	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603178	1.00[JPT][hapmap]
rs1462940	1.00[JPT][hapmap]
rs1544861	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16908001	1.00[JPT][hapmap]
rs16927077	1.00[JPT][hapmap]
rs17318955	1.00[JPT][hapmap]
rs17403439	1.00[JPT][hapmap]
rs17403460	1.00[JPT][hapmap]
rs17403795	1.00[JPT][hapmap]
rs17403942	1.00[JPT][hapmap]
rs17403977	1.00[JPT][hapmap]
rs1863243	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863244	1.00[JPT][hapmap]
rs1979367	1.00[JPT][hapmap]
rs2052690	0.86[AMR][1000 genomes]
rs2052691	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052692	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2098839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4025	1.00[JPT][hapmap]
rs41464450	1.00[JPT][hapmap]
rs4442541	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4909945	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910160	1.00[JPT][hapmap]
rs6484437	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936275	0.81[AMR][1000 genomes]
rs7940646	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs881869	1.00[JPT][hapmap]
rs903822	1.00[JPT][hapmap]
rs903823	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv832063	chr11:10618485-10785281	ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10646000-10679000	Weak transcription	Fetal Lung	lung
2	chr11:10646200-10679200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:10650400-10678600	Weak transcription	Right Ventricle	heart
4	chr11:10658800-10676600	Enhancers	Primary B cells from peripheral blood	blood
5	chr11:10664200-10678800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:10664400-10675000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:10668600-10674200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:10668600-10674400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:10668800-10674200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr11:10669400-10674400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr11:10669600-10675600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:10669600-10676800	Weak transcription	Fetal Intestine Large	intestine
13	chr11:10670200-10674600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:10670200-10675000	Weak transcription	K562	blood
15	chr11:10670400-10675400	Genic enhancers	Fetal Stomach	stomach
16	chr11:10670800-10675000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:10670800-10676400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:10671000-10676200	Weak transcription	A549	lung
19	chr11:10671400-10676000	Enhancers	Brain Anterior Caudate	brain
20	chr11:10671400-10676200	Enhancers	Brain Hippocampus Middle	brain
21	chr11:10671400-10677000	Weak transcription	Fetal Intestine Small	intestine
22	chr11:10672000-10679200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr11:10672200-10674600	Weak transcription	Primary B cells from cord blood	blood
24	chr11:10672400-10674400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:10672400-10674400	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:10672400-10675000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:10672600-10674400	Weak transcription	Brain Angular Gyrus	brain
28	chr11:10672600-10674400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:10672600-10674800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:10673000-10682200	Enhancers	Placenta	Placenta
31	chr11:10673200-10674600	Enhancers	NHDF-Ad	bronchial
32	chr11:10673200-10675800	Enhancers	Lung	lung
33	chr11:10673200-10676200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:10673200-10676800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr11:10673200-10677800	Enhancers	Colon Smooth Muscle	Colon
36	chr11:10673400-10674600	Enhancers	Fetal Muscle Trunk	muscle
37	chr11:10673400-10674600	Genic enhancers	NHLF	lung
38	chr11:10673400-10674800	Enhancers	Colonic Mucosa	Colon
39	chr11:10673400-10675200	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr11:10673400-10676000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:10673400-10676600	Enhancers	Spleen	Spleen
42	chr11:10673400-10679200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr11:10673400-10682800	Enhancers	Ovary	ovary
44	chr11:10673600-10674400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr11:10673600-10675200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:10673600-10675400	Weak transcription	GM12878-XiMat	blood
47	chr11:10673600-10678400	Weak transcription	Left Ventricle	heart
48	chr11:10673600-10678400	Weak transcription	Right Atrium	heart
49	chr11:10673800-10674400	Weak transcription	Aorta	Aorta
50	chr11:10673800-10675400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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