Variant report

Variant	rs72670391
Chromosome Location	chr14:31654516-31654517
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31654015..31655608-chr14:31658189..31660066,2	K562	blood:
2	chr14:31654015..31656848-chr14:31657830..31660066,3	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11620816	0.96[EUR][1000 genomes]
rs11622403	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11625570	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11625798	0.97[EUR][1000 genomes]
rs11626343	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11845860	0.96[EUR][1000 genomes]
rs11848094	0.91[EUR][1000 genomes]
rs11848563	0.96[EUR][1000 genomes]
rs17097735	0.94[EUR][1000 genomes]
rs17097741	0.93[EUR][1000 genomes]
rs17097743	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34039100	0.84[EUR][1000 genomes]
rs34684806	0.97[EUR][1000 genomes]
rs34745649	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3954287	0.91[EUR][1000 genomes]
rs45610935	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56168081	0.93[EUR][1000 genomes]
rs56346233	0.93[EUR][1000 genomes]
rs57000706	0.93[EUR][1000 genomes]
rs57893693	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58071351	0.93[EUR][1000 genomes]
rs58204331	0.94[EUR][1000 genomes]
rs58771204	0.85[EUR][1000 genomes]
rs59458716	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59933112	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60350855	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60928004	0.93[EUR][1000 genomes]
rs61592116	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66528205	0.91[EUR][1000 genomes]
rs67960414	0.93[EUR][1000 genomes]
rs72670334	0.83[EUR][1000 genomes]
rs72670351	0.93[EUR][1000 genomes]
rs72670364	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72670371	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72670374	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72670375	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72670377	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72670385	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72670390	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72670396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72670398	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72670399	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9888564	0.94[EUR][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	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS 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
2	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1043033	chr14:31538984-31686696	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31591800-31656400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:31629800-31664800	Weak transcription	Right Atrium	heart
3	chr14:31632800-31658000	Weak transcription	Small Intestine	intestine
4	chr14:31635800-31663400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:31637200-31658000	Weak transcription	Right Ventricle	heart
6	chr14:31637200-31675000	Weak transcription	Gastric	stomach
7	chr14:31637800-31662200	Strong transcription	Fetal Intestine Small	intestine
8	chr14:31638800-31672000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:31639600-31663400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:31640800-31674000	Weak transcription	Fetal Brain Male	brain
11	chr14:31643000-31664800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:31643000-31664800	Weak transcription	Psoas Muscle	Psoas
13	chr14:31643200-31662200	Weak transcription	Fetal Kidney	kidney
14	chr14:31643200-31663800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr14:31643200-31664000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:31643200-31664000	Weak transcription	Fetal Heart	heart
17	chr14:31643200-31675000	Weak transcription	Esophagus	oesophagus
18	chr14:31643400-31675000	Weak transcription	Spleen	Spleen
19	chr14:31643600-31659800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:31644400-31663200	Weak transcription	NH-A	brain
21	chr14:31644600-31658000	Weak transcription	Hela-S3	cervix
22	chr14:31644600-31659200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:31644800-31664200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:31644800-31664400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr14:31644800-31675000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:31644800-31675000	Weak transcription	Pancreas	Pancrea
27	chr14:31645000-31654600	Weak transcription	Lung	lung
28	chr14:31645000-31659000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:31645000-31659800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:31645000-31663400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:31645600-31659200	Weak transcription	HSMM	muscle
32	chr14:31645600-31659800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:31645600-31675000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr14:31645800-31659000	Weak transcription	NHLF	lung
35	chr14:31646600-31657600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr14:31646600-31674400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr14:31647400-31654600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:31647400-31654600	Weak transcription	Brain Angular Gyrus	brain
39	chr14:31647400-31655200	Weak transcription	Primary B cells from cord blood	blood
40	chr14:31647400-31659000	Weak transcription	NHEK	skin
41	chr14:31647400-31659200	Weak transcription	Colon Smooth Muscle	Colon
42	chr14:31647400-31664000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr14:31647400-31664200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr14:31647400-31664400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr14:31647400-31667200	Weak transcription	Brain Substantia Nigra	brain
46	chr14:31647600-31654600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr14:31647600-31659000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr14:31647600-31659200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr14:31647600-31659400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr14:31647600-31665200	Weak transcription	K562	blood

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