Variant report

Variant	rs35131475
Chromosome Location	chr11:8936464-8936465
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	CTCF	chr11:8936421-8936493	NHEK	skin:	n/a	n/a
2	MAX	chr11:8935497-8936602	NB4	blood:	n/a	chr11:8935866-8935875 chr11:8935678-8935688
3	SMC3	chr11:8935439-8936543	SK-N-SH	brain:	n/a	chr11:8936148-8936162
4	CTCF	chr11:8936396-8936496	GM19239	blood:	n/a	n/a
5	POLR2A	chr11:8936428-8936506	HepG2	liver:	n/a	n/a
6	TBL1XR1	chr11:8936454-8936757	K562	blood:	n/a	n/a
7	RAD21	chr11:8935847-8936468	H1-hESC	embryonic stem cell:	n/a	chr11:8936147-8936166 chr11:8936152-8936164 chr11:8936152-8936162 chr11:8936150-8936163
8	CTCF	chr11:8936426-8936488	GM12891	blood:	n/a	n/a
9	CTCF	chr11:8936393-8936492	GM19238	blood:	n/a	n/a
10	CTCF	chr11:8935478-8936889	SK-N-SH	brain:	n/a	chr11:8936707-8936715 chr11:8936149-8936162 chr11:8936146-8936164 chr11:8936734-8936742
11	CTCF	chr11:8936399-8936489	GM12892	blood:	n/a	n/a
12	WRNIP1	chr11:8935732-8936503	GM12878	blood:	n/a	n/a
13	RAD21	chr11:8935917-8936481	ECC-1	luminal epithelium:	n/a	chr11:8936147-8936166 chr11:8936152-8936164 chr11:8936152-8936162 chr11:8936150-8936163
14	RAD21	chr11:8935396-8936588	SK-N-SH	brain:	n/a	chr11:8936147-8936166 chr11:8936152-8936164 chr11:8936152-8936162 chr11:8936150-8936163
15	RAD21	chr11:8935820-8936529	A549	lung:	n/a	chr11:8936147-8936166 chr11:8936152-8936164 chr11:8936152-8936162 chr11:8936150-8936163
16	RAD21	chr11:8935847-8936547	HCT-116	colon:	n/a	chr11:8936147-8936166 chr11:8936152-8936164 chr11:8936152-8936162 chr11:8936150-8936163
17	RAD21	chr11:8935804-8936544	HCT-116	colon:	n/a	chr11:8936147-8936166 chr11:8936152-8936164 chr11:8936152-8936162 chr11:8936150-8936163
18	CTCF	chr11:8935394-8936609	A549	lung:	n/a	chr11:8936149-8936162 chr11:8936146-8936164
19	POLR2A	chr11:8935180-8936828	K562	blood:	n/a	n/a
20	CTCF	chr11:8936360-8936510	AoAF	blood vessel:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:8936435-8936485	HL-60	blood:	n/a
2	chr11:8936435-8936485	HCF	heart:	n/a
3	chr11:8936435-8936485	ovcar-3	ovarian:	n/a
4	chr11:8936435-8936485	HIPEpiC	eye:	n/a
5	chr11:8936435-8936485	BJ	skin:	n/a
6	chr11:8936435-8936485	HMEC	breast:	n/a
7	chr11:8936435-8936485	HRE	kidney:	n/a
8	chr11:8936435-8936485	AoSMC	blood vessel:	n/a
9	chr11:8936435-8936485	IMR90	lung:	fetal
10	chr11:8936435-8936485	PrEC	prostate:	n/a
11	chr11:8936435-8936485	MCF10A-Er-Src	breast:	n/a
12	chr11:8936435-8936485	NHDF-neo	bronchial:	n/a
13	chr11:8936435-8936485	SK-N-SH_RA	brain:	n/a
14	chr11:8936435-8936485	HEEpiC	esophagus:	n/a
15	chr11:8936435-8936485	GM19239	blood:	n/a
16	chr11:8936435-8936485	RPTEC	kidney:	n/a
17	chr11:8936435-8936485	BE2_C	brain:	n/a
18	chr11:8936435-8936485	SK-N-MC	brain:	n/a
19	chr11:8936435-8936485	MCF-7	breast:	n/a
20	chr11:8936435-8936485	U87	brain:	n/a
21	chr11:8936435-8936485	HAEpiC	amniotic membrane:	n/a
22	chr11:8936435-8936485	T-47D	breast:	n/a
23	chr11:8936435-8936485	GM12892	blood:	n/a
24	chr11:8936435-8936485	AG09309	skin:	n/a
25	chr11:8936435-8936485	SKMC	muscle:	n/a
26	chr11:8936435-8936485	HPAEpiC	pulmonary alveolar:	n/a
27	chr11:8936435-8936485	K562	blood:	n/a
28	chr11:8936435-8936485	HEK293	kidney:	embryo
29	chr11:8936435-8936485	NHBE	bronchial:	n/a
30	chr11:8936435-8936485	H1-hESC	embryonic stem cell:	embryo
31	chr11:8936435-8936485	NT2-D1	testis:	n/a
32	chr11:8936435-8936485	GM06990	blood:	n/a
33	chr11:8936435-8936485	AG09319	gingival:	n/a
34	chr11:8936435-8936485	HepG2	liver:	n/a
35	chr11:8936435-8936485	A549	lung:	n/a
36	chr11:8936435-8936485	ECC-1	luminal epithelium:	n/a
37	chr11:8936435-8936485	GM12891	blood:	n/a
38	chr11:8936435-8936485	HRCEpiC	kidney:	n/a
39	chr11:8936435-8936485	HNPCEpiC	eye:	n/a
40	chr11:8936435-8936485	Hela-S3	cervix:	n/a
41	chr11:8936435-8936485	HRPEpiC	eye:	n/a
42	chr11:8936435-8936485	HUVEC	blood vessel:	n/a
43	chr11:8936435-8936485	GM12878	blood:	n/a
44	chr11:8936435-8936485	PANC-1	pancreas:	n/a
45	chr11:8936435-8936485	HCM	heart:	n/a
46	chr11:8936435-8936485	ProgFib	skin:	n/a
47	chr11:8936435-8936485	PFSK-1	brain:	n/a
48	chr11:8936435-8936485	AG10803	skin:	n/a
49	chr11:8936435-8936485	SAEC	small airway:	n/a
50	chr11:8936435-8936485	AG04450	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr11:8934819..8937365-chr11:8941717..8944369,2	K562	blood:
2	chr11:8932596..8934469-chr11:8934808..8936495,2	MCF-7	breast:
3	chr11:8709217..8711333-chr11:8934595..8937178,2	MCF-7	breast:
4	chr11:8936222..8938105-chr11:8938810..8940330,2	MCF-7	breast:
5	chr11:8935646..8936651-chr11:8980737..8981722,3	MCF-7	breast:

Variant related genes	Relation type
ST5	TF binding region
ST5	CpG island
ENSG00000166452	Chromatin interaction
ENSG00000166441	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12574497	0.84[EUR][1000 genomes]
rs16906231	0.94[EUR][1000 genomes]
rs2455603	0.94[EUR][1000 genomes]
rs2653598	0.91[EUR][1000 genomes]
rs2742499	0.91[EUR][1000 genomes]
rs34856936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59314648	0.94[EUR][1000 genomes]
rs60771192	0.91[EUR][1000 genomes]
rs61730186	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72549208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72550808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7949740	0.97[EUR][1000 genomes]
rs7950777	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 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	chr11:8933400-8938000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:8933400-8947800	Weak transcription	Small Intestine	intestine
3	chr11:8933600-8938000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:8933600-8944000	Weak transcription	Pancreas	Pancrea
5	chr11:8934000-8938000	Weak transcription	Fetal Intestine Large	intestine
6	chr11:8934000-8941800	Weak transcription	Colonic Mucosa	Colon
7	chr11:8934000-8952200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:8934200-8936800	Enhancers	HepG2	liver
9	chr11:8934200-8936800	Genic enhancers	HSMM	muscle
10	chr11:8934200-8937200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:8934200-8937800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:8934200-8938000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:8934200-8938400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:8934200-8941600	Weak transcription	Esophagus	oesophagus
15	chr11:8934200-8948800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:8934800-8936600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:8934800-8936600	Enhancers	Liver	Liver
18	chr11:8934800-8936600	Enhancers	Brain Hippocampus Middle	brain
19	chr11:8934800-8936600	Enhancers	Fetal Heart	heart
20	chr11:8934800-8939400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:8935000-8936600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:8935000-8936600	Genic enhancers	Fetal Stomach	stomach
23	chr11:8935000-8936600	Enhancers	Spleen	Spleen
24	chr11:8935000-8936600	Genic enhancers	HSMMtube	muscle
25	chr11:8935000-8936800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr11:8935000-8936800	Enhancers	Brain Substantia Nigra	brain
27	chr11:8935000-8938200	Weak transcription	Psoas Muscle	Psoas
28	chr11:8935000-8940400	Genic enhancers	Fetal Muscle Leg	muscle
29	chr11:8935200-8936600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:8935200-8936600	Enhancers	Stomach Mucosa	stomach
31	chr11:8935200-8936800	Enhancers	Colon Smooth Muscle	Colon
32	chr11:8935400-8936600	Genic enhancers	A549	lung
33	chr11:8935600-8936600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr11:8935600-8936600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
35	chr11:8935600-8936600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr11:8935600-8936600	Transcr. at gene 5' and 3'	Dnd41	blood
37	chr11:8935600-8937600	Weak transcription	Fetal Intestine Small	intestine
38	chr11:8935800-8936600	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr11:8935800-8940000	Weak transcription	Gastric	stomach
40	chr11:8936000-8936600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:8936000-8936600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:8936000-8936600	Enhancers	Primary T cells from cord blood	blood
43	chr11:8936000-8936600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr11:8936000-8938000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:8936000-8938000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr11:8936000-8938000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:8936000-8938200	Weak transcription	Right Ventricle	heart
48	chr11:8936000-8938400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:8936000-8939600	Weak transcription	Fetal Brain Male	brain
50	chr11:8936000-8942800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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