Variant report

Variant	rs71508776
Chromosome Location	chr9:19100018-19100019
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	chr9:19095545..19097905-chr9:19098403..19100459,2	K562	blood:
2	chr9:19098429..19101130-chr9:19101314..19102834,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10465047	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10511670	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10511671	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10811112	1.00[ASN][1000 genomes]
rs10811113	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10963919	0.80[ASN][1000 genomes]
rs10963929	0.84[ASN][1000 genomes]
rs10963930	0.87[ASN][1000 genomes]
rs10963943	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10963944	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10963950	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10963953	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10963955	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10963958	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10963962	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10963964	0.90[ASN][1000 genomes]
rs10963966	0.89[ASN][1000 genomes]
rs10963967	0.83[ASN][1000 genomes]
rs11788135	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12237614	0.83[ASN][1000 genomes]
rs12238548	0.80[ASN][1000 genomes]
rs13284130	0.82[ASN][1000 genomes]
rs13291632	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13298563	0.80[ASN][1000 genomes]
rs13302453	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16937320	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2291502	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34490350	0.89[ASN][1000 genomes]
rs35000581	0.80[ASN][1000 genomes]
rs35448309	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35553284	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35629534	0.83[ASN][1000 genomes]
rs35874966	0.89[ASN][1000 genomes]
rs36087651	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780221	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7022748	0.82[ASN][1000 genomes]
rs7026759	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7031392	0.90[ASN][1000 genomes]
rs7040525	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71508774	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71508775	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73645573	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7852850	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7864553	0.93[ASN][1000 genomes]
rs7865126	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	nsv892700	chr9:18979441-19156784	Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1028623	chr9:19034742-19394712	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv540079	chr9:19034742-19394712	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv430003	chr9:19074740-19247826	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv870340	chr9:19077714-19143230	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1018947	chr9:19094894-19394712	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	81 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	chr9:19051600-19101400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:19054800-19100800	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:19056000-19101200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:19062000-19102200	Weak transcription	Stomach Mucosa	stomach
5	chr9:19066800-19100400	Weak transcription	Fetal Heart	heart
6	chr9:19066800-19100800	Weak transcription	Small Intestine	intestine
7	chr9:19071200-19101200	Weak transcription	Psoas Muscle	Psoas
8	chr9:19077400-19102200	Weak transcription	Gastric	stomach
9	chr9:19079600-19101200	Weak transcription	Ovary	ovary
10	chr9:19085400-19101200	Weak transcription	Colonic Mucosa	Colon
11	chr9:19086600-19102200	Weak transcription	Aorta	Aorta
12	chr9:19089600-19102000	Weak transcription	HSMMtube	muscle
13	chr9:19089800-19101800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr9:19090000-19101200	Weak transcription	Right Atrium	heart
15	chr9:19090200-19101200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:19091200-19101200	Weak transcription	Esophagus	oesophagus
17	chr9:19091600-19102000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr9:19091800-19100800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:19091800-19102000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:19092400-19100200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr9:19092400-19100800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr9:19092400-19101200	Weak transcription	Colon Smooth Muscle	Colon
23	chr9:19092400-19101200	Weak transcription	Fetal Brain Female	brain
24	chr9:19092600-19100800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr9:19093400-19100800	Weak transcription	Fetal Brain Male	brain
26	chr9:19093600-19100200	Weak transcription	K562	blood
27	chr9:19093600-19100400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:19093600-19100400	Weak transcription	NHEK	skin
29	chr9:19093800-19100600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr9:19093800-19101200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:19093800-19101200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:19093800-19101200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr9:19093800-19101200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:19093800-19101200	Weak transcription	Left Ventricle	heart
35	chr9:19093800-19101200	Weak transcription	Lung	lung
36	chr9:19093800-19101200	Weak transcription	Pancreas	Pancrea
37	chr9:19093800-19101200	Weak transcription	Right Ventricle	heart
38	chr9:19093800-19101200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr9:19093800-19101200	Weak transcription	Spleen	Spleen
40	chr9:19093800-19101200	Weak transcription	NHLF	lung
41	chr9:19093800-19101400	Weak transcription	Brain Angular Gyrus	brain
42	chr9:19093800-19101800	Weak transcription	Fetal Kidney	kidney
43	chr9:19093800-19102000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr9:19093800-19102200	Weak transcription	Brain Substantia Nigra	brain
45	chr9:19094200-19100600	Weak transcription	Brain Hippocampus Middle	brain
46	chr9:19094200-19100800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr9:19094200-19101200	Weak transcription	Brain Anterior Caudate	brain
48	chr9:19094200-19101200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr9:19094400-19101000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr9:19094400-19101200	Weak transcription	Brain Inferior Temporal Lobe	brain

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