Variant report

Variant	rs10182043
Chromosome Location	chr2:99417433-99417434
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	chr2:99417408..99419357-chr2:99767656..99770326,2	K562	blood:
2	chr2:99412895..99415398-chr2:99415733..99417676,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10174531	0.92[ASN][1000 genomes]
rs10175560	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10202643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11123754	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11900176	0.82[CEU][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11900524	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12712034	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12712037	0.82[CEU][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12990579	0.82[CEU][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2276604	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs2280142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35077008	0.81[EUR][1000 genomes]
rs35109359	0.81[EUR][1000 genomes]
rs35929117	0.81[EUR][1000 genomes]
rs6542837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6542839	0.81[MEX][hapmap]
rs6714330	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753465	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6753879	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6755640	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6757098	0.85[MEX][hapmap]
rs6760065	0.85[MEX][hapmap]
rs73962464	0.91[ASN][1000 genomes]
rs7423519	0.85[MEX][hapmap]
rs7560696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7565614	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7565736	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs885115	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10182043	FAHD2B	cis	parietal	SCAN
rs10182043	TSGA10	cis	cerebellum	SCAN
rs10182043	FAM178B	cis	parietal	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99406000-99421800	Weak transcription	Spleen	Spleen
2	chr2:99407600-99423800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:99409200-99425800	Weak transcription	Small Intestine	intestine
4	chr2:99409600-99426400	Weak transcription	Esophagus	oesophagus
5	chr2:99410600-99421600	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:99411200-99421200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:99411200-99421200	Weak transcription	Right Atrium	heart
8	chr2:99411200-99422200	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:99412800-99421800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:99413800-99422000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:99413800-99423800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:99414000-99418000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:99414000-99418400	Weak transcription	Fetal Intestine Small	intestine
14	chr2:99414000-99426600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:99414200-99422200	Weak transcription	Fetal Intestine Large	intestine
16	chr2:99414600-99422000	Weak transcription	Fetal Brain Male	brain
17	chr2:99415000-99417600	Enhancers	HUVEC	blood vessel
18	chr2:99415200-99418800	Enhancers	Fetal Thymus	thymus
19	chr2:99415200-99418800	Enhancers	Lung	lung
20	chr2:99415600-99418800	Enhancers	Gastric	stomach
21	chr2:99415600-99418800	Enhancers	Pancreas	Pancrea
22	chr2:99415800-99417600	Enhancers	Left Ventricle	heart
23	chr2:99415800-99418400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:99416000-99421200	Weak transcription	HMEC	breast
25	chr2:99416000-99421400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:99416200-99418000	Weak transcription	Brain Anterior Caudate	brain
27	chr2:99416200-99418400	Enhancers	Fetal Muscle Leg	muscle
28	chr2:99416200-99421800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:99416200-99421800	Weak transcription	Brain Substantia Nigra	brain
30	chr2:99416400-99421400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:99416400-99421800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:99416400-99422000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:99416600-99417800	Enhancers	Liver	Liver
34	chr2:99416800-99417800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr2:99417000-99418200	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr2:99417200-99418000	Enhancers	Psoas Muscle	Psoas
37	chr2:99417200-99418200	Enhancers	Thymus	Thymus
38	chr2:99417400-99417800	Enhancers	Fetal Heart	heart
39	chr2:99417400-99417800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr2:99417400-99417800	Weak transcription	Stomach Mucosa	stomach
41	chr2:99417400-99418000	Enhancers	Right Ventricle	heart
42	chr2:99417400-99418600	Enhancers	HepG2	liver

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