Variant report

Variant	rs2901443
Chromosome Location	chr7:66488027-66488028
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	chr7:66486194..66489134-chr7:66492643..66494345,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10081382	1.00[ASN][1000 genomes]
rs10240542	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243730	1.00[ASN][1000 genomes]
rs10247355	1.00[ASN][1000 genomes]
rs10266985	1.00[ASN][1000 genomes]
rs13222551	1.00[ASN][1000 genomes]
rs13222852	1.00[ASN][1000 genomes]
rs13222880	1.00[ASN][1000 genomes]
rs13239441	1.00[ASN][1000 genomes]
rs13241749	1.00[ASN][1000 genomes]
rs2421427	1.00[ASN][1000 genomes]
rs28524910	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28828435	1.00[ASN][1000 genomes]
rs28875922	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35175278	1.00[ASN][1000 genomes]
rs35955950	1.00[ASN][1000 genomes]
rs3980714	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3980761	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56042635	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56224758	1.00[ASN][1000 genomes]
rs56259510	1.00[ASN][1000 genomes]
rs57571665	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948594	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6956400	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958056	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968898	1.00[ASN][1000 genomes]
rs6973163	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783776	1.00[ASN][1000 genomes]
rs7789673	1.00[ASN][1000 genomes]
rs7791848	1.00[ASN][1000 genomes]
rs7795025	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7797194	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809602	1.00[ASN][1000 genomes]
rs7811073	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9654770	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1032575	chr7:66432853-66576034	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv981515	chr7:66477535-66532313	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv1848278	chr7:66482884-66494472	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2901443	TYW1	cis	Heart Left Ventricle	GTEx
rs2901443	TYW1	cis	Esophagus Mucosa	GTEx
rs2901443	TYW1	cis	Muscle Skeletal	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66462400-66490000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:66462400-66496000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:66462400-66500200	Weak transcription	Psoas Muscle	Psoas
4	chr7:66462400-66508000	Weak transcription	Stomach Mucosa	stomach
5	chr7:66462600-66497200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr7:66462800-66494600	Weak transcription	Esophagus	oesophagus
7	chr7:66463000-66507800	Weak transcription	Fetal Brain Male	brain
8	chr7:66463200-66510000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:66470000-66489000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:66470000-66489000	Strong transcription	Fetal Intestine Small	intestine
11	chr7:66470200-66488200	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr7:66470200-66488400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:66470200-66488400	Strong transcription	Fetal Stomach	stomach
14	chr7:66470200-66492200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr7:66470400-66489000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr7:66470400-66495200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:66470600-66492600	Strong transcription	Liver	Liver
18	chr7:66470600-66494800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr7:66474000-66492200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:66476800-66496800	Weak transcription	NHLF	lung
21	chr7:66477000-66495000	Weak transcription	Right Ventricle	heart
22	chr7:66477000-66499000	Weak transcription	Colonic Mucosa	Colon
23	chr7:66478000-66488200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr7:66478000-66488400	Strong transcription	Fetal Intestine Large	intestine
25	chr7:66478400-66490800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr7:66478800-66489800	Weak transcription	Osteobl	bone
27	chr7:66478800-66494600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:66480400-66494800	Weak transcription	Fetal Kidney	kidney
29	chr7:66480800-66494800	Weak transcription	Pancreas	Pancrea
30	chr7:66482000-66488200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr7:66482200-66488200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:66482200-66489000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:66482600-66488800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:66482600-66488800	Strong transcription	Fetal Thymus	thymus
35	chr7:66482600-66490200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:66482800-66489400	Strong transcription	Adipose Nuclei	Adipose
37	chr7:66483000-66488400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr7:66483000-66489000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr7:66483000-66490000	Strong transcription	Primary T cells from cord blood	blood
40	chr7:66483200-66489200	Weak transcription	Small Intestine	intestine
41	chr7:66483400-66494600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:66483400-66495000	Weak transcription	Brain Germinal Matrix	brain
43	chr7:66483400-66502000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:66483400-66551200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr7:66483600-66534400	Weak transcription	Aorta	Aorta
46	chr7:66483800-66494800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:66484400-66493000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr7:66484400-66494600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:66484400-66494600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:66484400-66494600	Weak transcription	Spleen	Spleen

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