Variant report

Variant	rs28377700
Chromosome Location	chr14:69018805-69018806
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68943428..68945388-chr14:69016683..69019444,2	MCF-7	breast:
2	chr14:69014687..69017316-chr14:69017983..69019961,2	MCF-7	breast:
3	chr14:68932051..68934015-chr14:69017184..69019251,2	MCF-7	breast:
4	chr14:69006886..69009005-chr14:69017187..69019247,2	MCF-7	breast:
5	chr14:69011818..69014393-chr14:69018316..69020253,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182185	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10130177	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134240	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137367	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147979	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148391	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483810	1.00[ASN][1000 genomes]
rs10483811	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849344	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105810	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105812	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105828	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105829	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28454359	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28492919	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28558877	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28671277	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59404246	1.00[ASN][1000 genomes]
rs6573841	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72727502	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729521	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016149	0.89[EUR][1000 genomes]
rs8017678	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323515	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv516239	chr14:69010690-69025870	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69009000-69023600	Enhancers	Fetal Muscle Leg	muscle
2	chr14:69012800-69019400	Enhancers	Left Ventricle	heart
3	chr14:69012800-69022000	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr14:69013000-69019200	Enhancers	Right Atrium	heart
5	chr14:69013400-69022600	Enhancers	HUVEC	blood vessel
6	chr14:69013600-69019000	Enhancers	Fetal Heart	heart
7	chr14:69013600-69019800	Enhancers	Fetal Kidney	kidney
8	chr14:69013600-69021200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr14:69013600-69022600	Enhancers	Adipose Nuclei	Adipose
10	chr14:69014200-69021000	Weak transcription	Small Intestine	intestine
11	chr14:69014400-69019400	Enhancers	Placenta	Placenta
12	chr14:69014400-69022600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:69014400-69022800	Enhancers	Rectal Smooth Muscle	rectum
14	chr14:69015400-69020400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:69015600-69020400	Enhancers	HMEC	breast
16	chr14:69015600-69021800	Enhancers	HSMMtube	muscle
17	chr14:69015800-69020400	Enhancers	Stomach Smooth Muscle	stomach
18	chr14:69015800-69022000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr14:69015800-69022600	Enhancers	NHDF-Ad	bronchial
20	chr14:69015800-69022800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:69015800-69023000	Weak transcription	Aorta	Aorta
22	chr14:69016000-69019000	Enhancers	Hela-S3	cervix
23	chr14:69016000-69019200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:69016000-69019800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr14:69016000-69020000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:69016000-69020200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:69016000-69020400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:69016000-69021000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:69016000-69022800	Enhancers	NHEK	skin
30	chr14:69016000-69023000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:69016600-69019000	Enhancers	Fetal Lung	lung
32	chr14:69016800-69019200	Enhancers	Right Ventricle	heart
33	chr14:69016800-69020200	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr14:69017000-69021000	Weak transcription	Gastric	stomach
35	chr14:69017000-69021000	Weak transcription	Pancreas	Pancrea
36	chr14:69017000-69023000	Weak transcription	Spleen	Spleen
37	chr14:69017200-69019600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr14:69017200-69021000	Weak transcription	Osteobl	bone
39	chr14:69017200-69021800	Weak transcription	NH-A	brain
40	chr14:69017200-69022600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:69017200-69022800	Enhancers	Colon Smooth Muscle	Colon
42	chr14:69017400-69019600	Weak transcription	Brain Germinal Matrix	brain
43	chr14:69017400-69020000	Enhancers	A549	lung
44	chr14:69017400-69020600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr14:69017400-69020600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr14:69017400-69020600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr14:69017400-69030400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr14:69017600-69019000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr14:69017600-69019200	Enhancers	Lung	lung
50	chr14:69017600-69021200	Weak transcription	HepG2	liver

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