Variant report

Variant	rs10874795
Chromosome Location	chr1:94284008-94284009
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	chr1:94280000..94282465-chr1:94282888..94285001,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10489605	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11164994	0.91[ASN][1000 genomes]
rs11165001	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11165019	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12076307	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12079584	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12239830	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1467129	0.83[GIH][hapmap]
rs17100397	0.97[ASN][1000 genomes]
rs17110394	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17110408	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17304770	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17878271	0.81[ASN][1000 genomes]
rs17878294	0.81[ASN][1000 genomes]
rs17881810	0.81[ASN][1000 genomes]
rs17884788	0.81[ASN][1000 genomes]
rs17885151	0.81[ASN][1000 genomes]
rs17886352	0.81[ASN][1000 genomes]
rs2223908	0.91[ASN][1000 genomes]
rs3761913	0.81[ASN][1000 genomes]
rs4526623	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4615846	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57870303	0.91[ASN][1000 genomes]
rs61425457	0.97[ASN][1000 genomes]
rs61781054	0.91[ASN][1000 genomes]
rs61781055	0.91[ASN][1000 genomes]
rs61781056	0.91[ASN][1000 genomes]
rs61781057	0.91[ASN][1000 genomes]
rs61782162	0.81[ASN][1000 genomes]
rs61782163	0.81[ASN][1000 genomes]
rs61782164	0.81[ASN][1000 genomes]
rs61782165	0.81[ASN][1000 genomes]
rs61782398	0.91[ASN][1000 genomes]
rs61782399	0.91[ASN][1000 genomes]
rs61782400	0.91[ASN][1000 genomes]
rs61782403	0.97[ASN][1000 genomes]
rs61782404	0.97[ASN][1000 genomes]
rs61782405	0.97[ASN][1000 genomes]
rs61782410	0.97[ASN][1000 genomes]
rs61782413	0.97[ASN][1000 genomes]
rs61782449	0.87[ASN][1000 genomes]
rs61782450	0.97[ASN][1000 genomes]
rs61782451	0.91[ASN][1000 genomes]
rs61782452	0.89[EUR][1000 genomes]
rs61782458	0.81[ASN][1000 genomes]
rs61782459	0.81[ASN][1000 genomes]
rs6541394	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6660794	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6671839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6674149	0.91[ASN][1000 genomes]
rs6689215	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6689746	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6703468	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs717913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723114	0.91[ASN][1000 genomes]
rs72723118	0.91[ASN][1000 genomes]
rs72723125	0.91[ASN][1000 genomes]
rs72723138	0.91[ASN][1000 genomes]
rs72723157	0.97[ASN][1000 genomes]
rs72723165	0.97[ASN][1000 genomes]
rs72723169	0.91[ASN][1000 genomes]
rs72723178	0.81[ASN][1000 genomes]
rs72967397	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555914	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs871436	0.83[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546822	chr1:94246577-94289863	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv1815663	chr1:94246577-94291252	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1877	chr1:94247756-94292908	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv508415	chr1:94256122-94305339	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv1802380	chr1:94272119-94291252	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1822452	chr1:94278128-94320233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94275800-94284200	Enhancers	Hela-S3	cervix
2	chr1:94275800-94285000	Enhancers	HMEC	breast
3	chr1:94276000-94285200	Enhancers	Placenta	Placenta
4	chr1:94277000-94284400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:94277000-94285000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:94277600-94284600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:94279400-94284400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:94279600-94302800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:94279800-94284400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:94279800-94284600	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:94280000-94285600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:94280000-94290000	Weak transcription	Brain Angular Gyrus	brain
13	chr1:94280400-94285000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:94280800-94285800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:94281000-94284400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:94281200-94284800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:94281200-94289600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:94281400-94285000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:94281400-94285600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:94281400-94285800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:94281600-94285000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:94281600-94285400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:94281800-94284200	Enhancers	Primary B cells from peripheral blood	blood
24	chr1:94281800-94285600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:94282200-94284200	Enhancers	Adipose Nuclei	Adipose
26	chr1:94282200-94284200	Enhancers	Dnd41	blood
27	chr1:94282200-94284400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:94282200-94284400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:94282400-94284200	Enhancers	Primary T cells fromperipheralblood	blood
30	chr1:94282400-94284400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:94282400-94284400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr1:94282400-94284400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:94282400-94284400	Enhancers	Fetal Intestine Small	intestine
34	chr1:94282400-94284400	Enhancers	Fetal Thymus	thymus
35	chr1:94282400-94284800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:94282400-94285800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr1:94282600-94284200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr1:94282600-94284200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:94282600-94284200	Enhancers	Spleen	Spleen
40	chr1:94282600-94284200	Enhancers	GM12878-XiMat	blood
41	chr1:94282600-94284400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:94282600-94284400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:94282800-94284200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:94282800-94284200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:94282800-94284200	Enhancers	Fetal Intestine Large	intestine
46	chr1:94282800-94284200	Enhancers	Fetal Muscle Trunk	muscle
47	chr1:94282800-94284200	Enhancers	Lung	lung
48	chr1:94282800-94285000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:94283000-94284200	Enhancers	HUVEC	blood vessel
50	chr1:94283000-94284400	Enhancers	Brain Substantia Nigra	brain

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