Variant report

Variant	rs3801144
Chromosome Location	chr7:38793055-38793056
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:38777448..38781271-chr7:38790893..38794034,3	K562	blood:
2	chr7:38787918..38790102-chr7:38792675..38794796,2	MCF-7	breast:
3	chr7:38787332..38789165-chr7:38790853..38793676,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10232480	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951570	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11978728	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12538785	0.99[ASN][1000 genomes]
rs12701660	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13244313	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1859937	0.81[EUR][1000 genomes]
rs1978170	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2074656	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2240350	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2240355	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2286081	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2286083	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2286085	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2286090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2286095	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286097	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2286099	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2286100	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2286102	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2392595	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3207255	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3779126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801135	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3801142	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4720298	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4720299	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4723783	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4723793	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6462858	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6462859	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6462861	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6462862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6961672	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7785056	0.82[ASN][1000 genomes]
rs7788664	0.82[EUR][1000 genomes]
rs7794371	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7806860	0.84[AMR][1000 genomes]
rs7811599	0.82[AMR][1000 genomes];0.81[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	nsv887965	chr7:38706384-38793243	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38749000-38803600	Weak transcription	Fetal Brain Male	brain
2	chr7:38757200-38835400	Weak transcription	Psoas Muscle	Psoas
3	chr7:38759200-38810200	Weak transcription	A549	lung
4	chr7:38759400-38810600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:38760000-38799800	Weak transcription	HUVEC	blood vessel
6	chr7:38760600-38800200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr7:38761000-38820400	Weak transcription	Stomach Mucosa	stomach
8	chr7:38762600-38793200	Weak transcription	Hela-S3	cervix
9	chr7:38763200-38828000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:38763400-38828800	Weak transcription	HepG2	liver
11	chr7:38765400-38802800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:38767200-38802800	Weak transcription	Right Ventricle	heart
13	chr7:38767200-38805800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:38769800-38795000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:38774800-38816800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:38775800-38816600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr7:38777400-38800400	Strong transcription	Primary B cells from cord blood	blood
18	chr7:38779800-38794800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:38780800-38803600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:38780800-38806000	Weak transcription	Fetal Brain Female	brain
21	chr7:38780800-38828800	Weak transcription	Gastric	stomach
22	chr7:38781400-38805800	Weak transcription	Brain Substantia Nigra	brain
23	chr7:38784400-38805800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:38784600-38805800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:38784800-38835000	Weak transcription	NHEK	skin
26	chr7:38785000-38815800	Weak transcription	NHLF	lung
27	chr7:38785600-38834600	Weak transcription	HMEC	breast
28	chr7:38785600-38835000	Weak transcription	NH-A	brain
29	chr7:38786600-38794800	Weak transcription	Fetal Intestine Small	intestine
30	chr7:38786600-38805800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:38786600-38805800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:38786600-38806000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:38787000-38827400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr7:38787200-38797000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:38789000-38797400	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr7:38789000-38800000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr7:38789000-38818800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr7:38789200-38800000	Strong transcription	Fetal Intestine Large	intestine
39	chr7:38789400-38795000	Strong transcription	Fetal Muscle Trunk	muscle
40	chr7:38789400-38795600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:38789400-38795800	Strong transcription	Primary T cells from cord blood	blood
42	chr7:38789400-38799600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:38789600-38793800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:38789600-38794400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr7:38789600-38794800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:38789600-38795000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr7:38789600-38795400	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr7:38789600-38795400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr7:38789600-38797800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:38789600-38798000	Strong transcription	Primary hematopoietic stem cells	blood

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