Variant report

Variant	rs3818943
Chromosome Location	chr1:203379592-203379593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:203363383..203365308-chr1:203378338..203380043,2	MCF-7	breast:
2	chr1:203377735..203380364-chr1:203401115..203403811,2	K562	blood:
3	chr1:203372032..203373841-chr1:203378581..203380625,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10753942	0.84[EUR][1000 genomes]
rs10753943	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10800929	0.85[ASN][1000 genomes]
rs10800930	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800931	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10920639	0.81[EUR][1000 genomes]
rs10920640	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10920643	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10920644	0.96[ASN][1000 genomes]
rs10920645	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10920646	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10920647	0.96[ASN][1000 genomes]
rs10920648	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10920649	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11584151	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12044008	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12127756	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12129572	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12131687	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12565161	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16851575	0.82[EUR][1000 genomes]
rs1891181	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2365601	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4634967	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4638182	0.82[EUR][1000 genomes]
rs4971206	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7542909	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7542979	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7549494	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762217	chr1:203378754-203599192	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3818943	TMEM81	cis	parietal	SCAN
rs3818943	C1orf157	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:203373600-203379800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:203375000-203379600	Enhancers	Fetal Intestine Large	intestine
3	chr1:203375800-203379600	Enhancers	Brain Angular Gyrus	brain
4	chr1:203376400-203380000	Enhancers	Rectal Smooth Muscle	rectum
5	chr1:203376600-203379800	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr1:203377000-203381400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:203377600-203379600	Enhancers	Fetal Stomach	stomach
8	chr1:203377600-203380200	Enhancers	Primary B cells from peripheral blood	blood
9	chr1:203377600-203380200	Enhancers	Fetal Thymus	thymus
10	chr1:203377600-203380600	Enhancers	Placenta	Placenta
11	chr1:203377600-203380600	Enhancers	Thymus	Thymus
12	chr1:203377800-203379800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:203378200-203380000	Enhancers	Primary B cells from cord blood	blood
14	chr1:203378200-203380200	Weak transcription	Spleen	Spleen
15	chr1:203378200-203380400	Weak transcription	Lung	lung
16	chr1:203378400-203380000	Enhancers	Stomach Smooth Muscle	stomach
17	chr1:203378600-203379600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:203378600-203379800	Weak transcription	Brain Substantia Nigra	brain
19	chr1:203378800-203380000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:203378800-203380000	Enhancers	Colon Smooth Muscle	Colon
21	chr1:203378800-203380200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:203378800-203380200	Weak transcription	Stomach Mucosa	stomach
23	chr1:203378800-203380800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr1:203379000-203392000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:203379000-203394000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:203379200-203379800	Weak transcription	Aorta	Aorta
27	chr1:203379200-203380000	Enhancers	Primary hematopoietic stem cells	blood
28	chr1:203379400-203379800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:203379400-203379800	Enhancers	Fetal Lung	lung
30	chr1:203379400-203380400	Weak transcription	Fetal Intestine Small	intestine

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