Variant report

Variant	rs12749958
Chromosome Location	chr1:150276554-150276555
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150273542..150277317-chr1:150288734..150292129,4	MCF-7	breast:
2	chr1:150240909..150242553-chr1:150274795..150276928,2	MCF-7	breast:
3	chr1:150272877..150274381-chr1:150274670..150277501,2	K562	blood:
4	chr1:150253424..150256570-chr1:150274213..150277391,3	MCF-7	breast:
5	chr1:150274604..150277468-chr1:150284678..150287144,3	K562	blood:
6	chr1:150274394..150277306-chr1:150282365..150283997,2	K562	blood:
7	chr1:150274327..150277106-chr1:150277953..150280795,3	MCF-7	breast:
8	chr1:150273449..150279043-chr1:150279801..150282340,7	MCF-7	breast:
9	chr1:150259336..150261005-chr1:150276218..150278287,2	MCF-7	breast:
10	chr1:150269403..150271858-chr1:150275044..150277838,2	K562	blood:
11	chr1:150270358..150272850-chr1:150276338..150279284,2	K562	blood:
12	chr1:150274446..150278949-chr1:150292354..150296326,6	MCF-7	breast:
13	chr1:150270315..150271818-chr1:150274900..150276885,2	MCF-7	breast:
14	chr1:150272468..150277468-chr1:150279289..150286428,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000159208	Chromatin interaction
ENSG00000117362	Chromatin interaction
ENSG00000117360	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11799813	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800656	1.00[ASN][1000 genomes]
rs11801190	1.00[ASN][1000 genomes]
rs11802612	1.00[ASN][1000 genomes]
rs11803448	1.00[ASN][1000 genomes]
rs11806171	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11807119	1.00[ASN][1000 genomes]
rs11809332	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12723364	1.00[ASN][1000 genomes]
rs12724450	1.00[ASN][1000 genomes]
rs12729727	1.00[ASN][1000 genomes]
rs12730265	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12733783	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12735903	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12736584	1.00[ASN][1000 genomes]
rs12743761	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12745672	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756583	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12759551	1.00[ASN][1000 genomes]
rs28495360	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34001546	1.00[ASN][1000 genomes]
rs34233130	1.00[ASN][1000 genomes]
rs34307322	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34347495	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34448981	1.00[ASN][1000 genomes]
rs34514406	1.00[ASN][1000 genomes]
rs34542152	1.00[ASN][1000 genomes]
rs34609268	1.00[ASN][1000 genomes]
rs34964511	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35094010	1.00[ASN][1000 genomes]
rs35347210	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35437473	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35762205	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35839143	1.00[ASN][1000 genomes]
rs35935423	1.00[ASN][1000 genomes]
rs4845	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56214117	1.00[ASN][1000 genomes]
rs58427317	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58853199	1.00[ASN][1000 genomes]
rs6689338	0.82[AFR][1000 genomes]
rs71515775	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622688	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622694	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622695	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622696	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622697	0.81[EUR][1000 genomes]
rs71622698	1.00[ASN][1000 genomes]
rs74124663	1.00[ASN][1000 genomes]
rs74124686	1.00[ASN][1000 genomes]
rs7517003	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535275	1.00[ASN][1000 genomes]
rs7546610	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
3	nsv1011223	chr1:150229205-150279380	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150267000-150280000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:150267000-150280000	Weak transcription	Small Intestine	intestine
3	chr1:150267000-150284000	Weak transcription	Brain Substantia Nigra	brain
4	chr1:150267000-150293200	Weak transcription	Stomach Mucosa	stomach
5	chr1:150267200-150280000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:150267200-150280000	Weak transcription	Esophagus	oesophagus
7	chr1:150267200-150286400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:150267600-150277800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:150267800-150277000	Strong transcription	Adipose Nuclei	Adipose
10	chr1:150267800-150280800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:150267800-150281400	Strong transcription	Liver	Liver
12	chr1:150267800-150282000	Strong transcription	Fetal Muscle Trunk	muscle
13	chr1:150268000-150281000	Strong transcription	Fetal Muscle Leg	muscle
14	chr1:150268000-150281400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr1:150268000-150282600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:150268000-150293200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:150268200-150278800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:150268200-150279800	Weak transcription	Pancreas	Pancrea
19	chr1:150268200-150282600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:150268200-150282600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:150268200-150282800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:150268200-150282800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:150268200-150282800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:150268400-150276800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:150268600-150281000	Weak transcription	Fetal Brain Male	brain
26	chr1:150269000-150281400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:150269000-150282800	Strong transcription	Fetal Thymus	thymus
28	chr1:150269200-150277000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:150269200-150277600	Weak transcription	NHDF-Ad	bronchial
30	chr1:150269400-150282800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:150270600-150277800	Strong transcription	Fetal Intestine Large	intestine
32	chr1:150271600-150284000	Weak transcription	Colonic Mucosa	Colon
33	chr1:150272200-150277000	Strong transcription	Osteobl	bone
34	chr1:150272200-150277200	Strong transcription	A549	lung
35	chr1:150272600-150276800	Strong transcription	HSMM	muscle
36	chr1:150272600-150282800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:150272800-150276800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:150273400-150278800	Strong transcription	Primary B cells from cord blood	blood
39	chr1:150273600-150277000	Strong transcription	Duodenum Mucosa	Duodenum
40	chr1:150273600-150280800	Strong transcription	Thymus	Thymus
41	chr1:150274000-150278000	Strong transcription	Fetal Lung	lung
42	chr1:150274000-150282800	Strong transcription	Fetal Brain Female	brain
43	chr1:150274200-150276600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:150274400-150277200	Strong transcription	K562	blood
45	chr1:150274400-150281000	Strong transcription	Primary T cells from cord blood	blood
46	chr1:150274600-150278200	Strong transcription	HUVEC	blood vessel
47	chr1:150274800-150279800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:150274800-150282800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:150274800-150284600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr1:150275000-150278200	Strong transcription	Brain Cingulate Gyrus	brain

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