Variant report

Variant	rs35995150
Chromosome Location	chr1:113264930-113264931
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113264247..113266152-chr1:113268040..113271030,2	MCF-7	breast:
2	chr1:113256385..113261073-chr1:113263679..113266561,4	K562	blood:

Variant related genes	Relation type
ENSG00000155367	Chromatin interaction
ENSG00000261595	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12722725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12722910	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12724682	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12729635	1.00[ASN][1000 genomes]
rs12736457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12737053	1.00[ASN][1000 genomes]
rs34611728	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34731458	1.00[ASN][1000 genomes]
rs34961977	1.00[ASN][1000 genomes]
rs351366	1.00[ASN][1000 genomes]
rs35735679	1.00[ASN][1000 genomes]
rs36087180	1.00[ASN][1000 genomes]
rs61818824	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61818825	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61818828	1.00[ASN][1000 genomes]
rs6688050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71659381	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	esv18511	chr1:113246318-113350775	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv998794	chr1:113246630-113310418	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv872157	chr1:113247467-113265819	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
11	nsv547566	chr1:113248365-113301657	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv872158	chr1:113250888-113265819	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv872159	chr1:113252091-113265819	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv818378	chr1:113263711-113434818	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113261800-113265000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:113261800-113265200	Weak transcription	HSMM	muscle
3	chr1:113261800-113265400	Weak transcription	Primary B cells from cord blood	blood
4	chr1:113261800-113266000	Weak transcription	Esophagus	oesophagus
5	chr1:113262000-113265000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:113262000-113265000	Weak transcription	Brain Anterior Caudate	brain
7	chr1:113262000-113265000	Weak transcription	Osteobl	bone
8	chr1:113262000-113265200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:113262000-113265400	Weak transcription	Right Atrium	heart
10	chr1:113262000-113265600	Weak transcription	Brain Substantia Nigra	brain
11	chr1:113262000-113265800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:113264200-113266200	Enhancers	NHEK	skin
13	chr1:113264400-113265000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:113264400-113266000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:113264600-113265000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:113264600-113265000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:113264600-113265000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr1:113264600-113265200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
19	chr1:113264600-113265200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
20	chr1:113264600-113265200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:113264600-113265200	Enhancers	Fetal Muscle Leg	muscle
22	chr1:113264600-113265200	Enhancers	Ovary	ovary
23	chr1:113264600-113265400	Enhancers	Pancreas	Pancrea
24	chr1:113264600-113265600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr1:113264600-113265600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr1:113264600-113265600	Enhancers	Placenta	Placenta
27	chr1:113264600-113265800	Enhancers	Fetal Lung	lung
28	chr1:113264600-113266000	Enhancers	HMEC	breast
29	chr1:113264600-113266400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:113264600-113266400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:113264600-113266400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:113264600-113266400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:113264600-113266400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:113264600-113266600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:113264600-113266600	Enhancers	Fetal Thymus	thymus
36	chr1:113264600-113266800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:113264800-113265000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
38	chr1:113264800-113265000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
39	chr1:113264800-113265000	Bivalent Enhancer	Lung	lung
40	chr1:113264800-113265200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:113264800-113265200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
42	chr1:113264800-113265200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:113264800-113265200	Enhancers	Fetal Stomach	stomach
44	chr1:113264800-113265400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr1:113264800-113265400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:113264800-113265400	Enhancers	Brain Germinal Matrix	brain
47	chr1:113264800-113265400	Bivalent Enhancer	Fetal Brain Male	brain
48	chr1:113264800-113265400	Enhancers	Right Ventricle	heart
49	chr1:113264800-113265400	Flanking Bivalent TSS/Enh	HepG2	liver
50	chr1:113264800-113266200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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