Variant report

Variant	rs172334
Chromosome Location	chr1:76606948-76606949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs167050	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs289682	1.00[JPT][hapmap]
rs289683	1.00[JPT][hapmap]
rs289698	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs289699	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs289700	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs289701	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2992502	1.00[JPT][hapmap]
rs2992503	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3011994	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3011995	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs384233	0.84[EUR][1000 genomes]
rs387214	1.00[JPT][hapmap]
rs389899	1.00[JPT][hapmap]
rs399529	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs403449	0.84[EUR][1000 genomes]
rs409245	0.84[EUR][1000 genomes]
rs418644	1.00[JPT][hapmap]
rs423152	1.00[JPT][hapmap]
rs447383	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs491409	0.82[EUR][1000 genomes]
rs551954	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs552890	0.81[EUR][1000 genomes]
rs597362	1.00[JPT][hapmap]
rs61558985	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs622212	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs643289	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs681280	1.00[JPT][hapmap]
rs860154	1.00[JPT][hapmap]
rs915402	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs915403	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs915404	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[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	nsv1488	chr1:76587622-76632635	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76576600-76620000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:76588200-76615600	Weak transcription	Left Ventricle	heart
3	chr1:76591200-76607800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:76592600-76610800	Weak transcription	Fetal Kidney	kidney
5	chr1:76593000-76608200	Weak transcription	Fetal Lung	lung
6	chr1:76594200-76607400	Weak transcription	Fetal Brain Female	brain
7	chr1:76594600-76615400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:76598600-76609800	Weak transcription	Fetal Stomach	stomach
9	chr1:76599800-76620200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:76601800-76608200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:76602000-76607600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:76603600-76608000	Weak transcription	Right Atrium	heart
13	chr1:76604600-76608200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:76604800-76609200	Enhancers	Brain Hippocampus Middle	brain
15	chr1:76605000-76608800	Enhancers	Brain Substantia Nigra	brain
16	chr1:76605400-76607800	Enhancers	Adipose Nuclei	Adipose
17	chr1:76605600-76607200	Enhancers	Small Intestine	intestine
18	chr1:76605600-76608200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:76605800-76607000	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr1:76605800-76607200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:76605800-76608200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr1:76605800-76608200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr1:76605800-76608200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:76605800-76608200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:76606000-76607200	Enhancers	Stomach Mucosa	stomach
26	chr1:76606000-76607800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:76606200-76607400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:76606200-76608000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:76606200-76608800	Weak transcription	Fetal Brain Male	brain
30	chr1:76606200-76613400	Weak transcription	Brain Anterior Caudate	brain
31	chr1:76606200-76614800	Weak transcription	Brain Angular Gyrus	brain
32	chr1:76606200-76620000	Weak transcription	Spleen	Spleen
33	chr1:76606400-76607400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:76606400-76607400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:76606400-76607600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:76606400-76607800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:76606400-76608000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:76606600-76607000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:76606800-76607000	Enhancers	Duodenum Mucosa	Duodenum
40	chr1:76606800-76607600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:76606800-76607600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:76606800-76607800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:76606800-76608600	Weak transcription	Fetal Intestine Large	intestine
44	chr1:76606800-76608800	Weak transcription	Fetal Intestine Small	intestine

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