Variant report

Variant	rs10180542
Chromosome Location	chr2:153327452-153327453
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153320822..153322882-chr2:153325316..153328056,3	MCF-7	breast:
2	chr2:153320112..153322379-chr2:153325356..153328179,2	K562	blood:
3	chr2:153326388..153330903-chr2:153339849..153343861,4	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10173899	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10194603	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10208776	0.83[ASN][1000 genomes]
rs10432493	0.88[ASN][1000 genomes]
rs12616906	0.82[ASN][1000 genomes]
rs13390698	0.86[ASN][1000 genomes]
rs13424038	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs16831169	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16831174	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2078444	0.84[ASN][1000 genomes]
rs2346205	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2346209	0.82[ASN][1000 genomes]
rs2881339	0.82[ASN][1000 genomes]
rs4143274	0.82[ASN][1000 genomes]
rs4664587	0.83[ASN][1000 genomes]
rs4664589	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4664590	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58121347	0.97[ASN][1000 genomes]
rs59965317	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6434061	0.80[ASN][1000 genomes]
rs6725661	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6737699	0.85[ASN][1000 genomes]
rs6748954	0.80[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs73002264	0.87[ASN][1000 genomes]
rs73968029	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7559217	0.90[ASN][1000 genomes]
rs7582984	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7586195	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7587794	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7590207	0.80[ASN][1000 genomes]
rs7592283	0.81[ASN][1000 genomes]
rs7593411	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7594969	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7606592	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv875292	chr2:153308471-153357383	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2830258	chr2:153318339-153349165	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153317400-153328000	Enhancers	Brain Substantia Nigra	brain
2	chr2:153320600-153328400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:153320800-153329400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:153320800-153331600	Enhancers	Hela-S3	cervix
5	chr2:153321000-153329600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:153322800-153329200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:153324200-153329000	Weak transcription	Right Ventricle	heart
8	chr2:153324400-153331000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:153324600-153328000	Weak transcription	Placenta	Placenta
10	chr2:153324600-153330800	Enhancers	Fetal Intestine Small	intestine
11	chr2:153324800-153340000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:153325200-153329000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:153325600-153327800	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:153325800-153327800	Weak transcription	Fetal Brain Male	brain
15	chr2:153325800-153330000	Enhancers	Small Intestine	intestine
16	chr2:153326000-153327600	Enhancers	Duodenum Mucosa	Duodenum
17	chr2:153326000-153328000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:153326000-153328000	Enhancers	Brain Angular Gyrus	brain
19	chr2:153326000-153328000	Weak transcription	NHLF	lung
20	chr2:153326000-153328200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:153326000-153328600	Enhancers	Fetal Kidney	kidney
22	chr2:153326000-153329000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:153326000-153329000	Enhancers	A549	lung
24	chr2:153326000-153329800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr2:153326000-153330000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:153326000-153330800	Enhancers	Stomach Mucosa	stomach
27	chr2:153326000-153331600	Enhancers	Brain Cingulate Gyrus	brain
28	chr2:153326200-153327600	Weak transcription	Fetal Heart	heart
29	chr2:153326200-153327600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:153326200-153327800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:153326200-153327800	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:153326200-153327800	Weak transcription	Ovary	ovary
33	chr2:153326200-153328000	Weak transcription	Left Ventricle	heart
34	chr2:153326200-153328000	Weak transcription	Right Atrium	heart
35	chr2:153326200-153328000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:153326200-153328000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:153326200-153329000	Weak transcription	Colonic Mucosa	Colon
38	chr2:153326200-153329000	Weak transcription	Pancreas	Pancrea
39	chr2:153326200-153330400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:153326200-153330600	Weak transcription	Lung	lung
41	chr2:153326200-153332600	Weak transcription	Adipose Nuclei	Adipose
42	chr2:153326200-153333000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:153326200-153334200	Enhancers	Brain Anterior Caudate	brain
44	chr2:153326200-153339200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:153326200-153345800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:153326400-153327600	Weak transcription	Liver	Liver
47	chr2:153326600-153328000	Enhancers	Brain Hippocampus Middle	brain
48	chr2:153326600-153329000	Weak transcription	NHEK	skin
49	chr2:153326800-153328000	Weak transcription	Aorta	Aorta
50	chr2:153326800-153328000	Weak transcription	Psoas Muscle	Psoas

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