Variant report

Variant	rs1155358
Chromosome Location	chr1:228132756-228132757
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227916221..227923035-chr1:228131852..228141791,18	MCF-7	breast:
2	chr1:228131240..228133349-chr1:228272206..228274582,2	K562	blood:
3	chr1:227727960..227729815-chr1:228131832..228133962,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143740	Chromatin interaction
ENSG00000081692	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13373831	0.84[ASN][1000 genomes]
rs56772497	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs58978756	0.81[ASN][1000 genomes]
rs60408515	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6426490	0.82[ASN][1000 genomes]
rs6675355	0.81[ASN][1000 genomes]
rs6701785	0.82[ASN][1000 genomes]
rs7515849	0.85[ASN][1000 genomes]
rs7517798	0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7529664	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7541491	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv1005852	chr1:227957099-228148363	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv535319	chr1:227957099-228148363	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
7	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription 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 miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
9	nsv873251	chr1:228051234-228160911	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228107800-228134400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:228109800-228134000	Weak transcription	Right Atrium	heart
3	chr1:228118400-228133000	Weak transcription	Ovary	ovary
4	chr1:228126200-228134400	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr1:228126600-228133400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr1:228127000-228133600	Enhancers	Fetal Muscle Leg	muscle
7	chr1:228128000-228133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:228128200-228132800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:228128400-228133600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:228129000-228132800	Weak transcription	HSMM	muscle
11	chr1:228129400-228134400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr1:228130200-228133000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:228130200-228133600	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr1:228130400-228133000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:228130600-228132800	Weak transcription	HSMMtube	muscle
16	chr1:228130600-228134400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr1:228130800-228133800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:228131000-228133000	Flanking Active TSS	Fetal Heart	heart
19	chr1:228131400-228132800	Weak transcription	Fetal Intestine Large	intestine
20	chr1:228131400-228133600	Enhancers	Fetal Stomach	stomach
21	chr1:228131800-228132800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:228131800-228133800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:228131800-228133800	Weak transcription	Brain Angular Gyrus	brain
24	chr1:228131800-228134000	Enhancers	Fetal Lung	lung
25	chr1:228131800-228134200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:228132000-228132800	Enhancers	Hela-S3	cervix
27	chr1:228132000-228133800	Enhancers	Brain Cingulate Gyrus	brain
28	chr1:228132000-228134200	Enhancers	Right Ventricle	heart
29	chr1:228132000-228134400	Enhancers	Left Ventricle	heart
30	chr1:228132200-228132800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:228132200-228133000	Enhancers	HMEC	breast
32	chr1:228132200-228133200	Weak transcription	Brain Substantia Nigra	brain
33	chr1:228132200-228133200	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr1:228132200-228133200	Weak transcription	NHLF	lung
35	chr1:228132200-228133400	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:228132200-228133600	Enhancers	Colonic Mucosa	Colon
37	chr1:228132200-228133600	Enhancers	Placenta Amnion	Placenta Amnion
38	chr1:228132200-228133800	Enhancers	Esophagus	oesophagus
39	chr1:228132200-228133800	Enhancers	Pancreas	Pancrea
40	chr1:228132200-228134000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:228132200-228134000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:228132200-228134200	Enhancers	Spleen	Spleen
43	chr1:228132200-228134400	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr1:228132400-228133600	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr1:228132400-228134000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr1:228132600-228132800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:228132600-228133400	Enhancers	Fetal Intestine Small	intestine
48	chr1:228132600-228133600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:228132600-228133800	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr1:228132600-228134000	Enhancers	Gastric	stomach

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