Variant report

Variant	rs4245203
Chromosome Location	chr11:119579260-119579261
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119578331..119580613-chr11:119597735..119601327,3	MCF-7	breast:
2	chr11:119572643..119574728-chr11:119576925..119579390,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110400	Chromatin interaction
ENSG00000254854	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10790338	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10892440	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10892442	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11600071	0.96[EUR][1000 genomes]
rs12416901	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4245204	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245205	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4409845	0.92[EUR][1000 genomes]
rs4533047	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7104562	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104655	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925057	0.84[ASN][1000 genomes]
rs7927510	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7931978	0.85[ASN][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	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv898422	chr11:119518006-119601779	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv468880	chr11:119564496-119588062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv556471	chr11:119564496-119588062	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1051769	chr11:119572865-119630769	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119561000-119580600	Weak transcription	Fetal Kidney	kidney
2	chr11:119565200-119582600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:119568000-119580600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:119568400-119580600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:119568400-119587000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:119568600-119580600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:119568600-119580600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:119568600-119590400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:119571800-119579600	Weak transcription	NH-A	brain
10	chr11:119571800-119580000	Weak transcription	Colonic Mucosa	Colon
11	chr11:119572600-119592000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:119572800-119580000	Weak transcription	Lung	lung
13	chr11:119573000-119591800	Weak transcription	Left Ventricle	heart
14	chr11:119573200-119580600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:119573800-119579600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:119574000-119580000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:119574000-119583200	Weak transcription	Placenta	Placenta
18	chr11:119574000-119597200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:119574200-119579600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:119574200-119580000	Weak transcription	HSMM	muscle
21	chr11:119574200-119580200	Weak transcription	Spleen	Spleen
22	chr11:119574400-119579800	Weak transcription	Fetal Muscle Leg	muscle
23	chr11:119574800-119580000	Weak transcription	Brain Anterior Caudate	brain
24	chr11:119575200-119591600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:119576000-119580600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:119576400-119579400	Weak transcription	HMEC	breast
27	chr11:119576400-119580200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr11:119576600-119579800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:119576800-119580600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:119576800-119587200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:119577000-119579800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr11:119577000-119579800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr11:119577000-119581400	Enhancers	Brain Substantia Nigra	brain
34	chr11:119577400-119583000	Weak transcription	Fetal Heart	heart
35	chr11:119577600-119579400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:119577600-119579800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr11:119577600-119582400	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr11:119577800-119579400	Weak transcription	Fetal Thymus	thymus
39	chr11:119577800-119580000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:119577800-119583400	Weak transcription	Stomach Mucosa	stomach
41	chr11:119578000-119579600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:119578000-119579600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:119578000-119579800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:119578000-119580200	Weak transcription	Small Intestine	intestine
45	chr11:119578000-119580400	Weak transcription	NHEK	skin
46	chr11:119578000-119582400	Weak transcription	Pancreas	Pancrea
47	chr11:119578000-119583600	Weak transcription	Gastric	stomach
48	chr11:119578000-119584800	Weak transcription	Right Ventricle	heart
49	chr11:119578200-119580000	Weak transcription	Brain Angular Gyrus	brain
50	chr11:119578200-119581200	Weak transcription	HepG2	liver

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