Variant report

Variant	rs337257
Chromosome Location	chr5:68391550-68391551
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68388226..68392530-chr5:68662317..68667070,8	K562	blood:
2	chr5:68388860..68391967-chr5:68513712..68515652,4	K562	blood:
3	chr5:68389331..68393521-chr5:68397846..68403936,9	K562	blood:
4	chr5:68388570..68392149-chr5:68396982..68399420,3	MCF-7	breast:
5	chr5:68389777..68391751-chr5:68483907..68486743,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145740	Chromatin interaction
ENSG00000153044	Chromatin interaction
ENSG00000134056	Chromatin interaction
ENSG00000085231	Chromatin interaction
ENSG00000152942	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10214127	0.82[CHB][hapmap]
rs164392	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs170893	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs234263	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs337250	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs337252	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs337258	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs337260	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs449607	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs52131	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3391099	chr5:68377245-68400350	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv3413325	chr5:68389021-68391569	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 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	chr5:68389400-68391600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:68389400-68391600	Active TSS	Colonic Mucosa	Colon
3	chr5:68390600-68391600	Flanking Active TSS	Hela-S3	cervix
4	chr5:68390600-68405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:68390800-68391600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:68390800-68392400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr5:68390800-68392600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr5:68390800-68392600	Weak transcription	Lung	lung
9	chr5:68390800-68392800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr5:68390800-68395800	Weak transcription	Aorta	Aorta
11	chr5:68390800-68395800	Weak transcription	Esophagus	oesophagus
12	chr5:68390800-68405200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:68391000-68391600	Enhancers	Primary B cells from cord blood	blood
14	chr5:68391000-68391600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:68391000-68391600	Enhancers	Fetal Lung	lung
16	chr5:68391000-68391600	Enhancers	Rectal Smooth Muscle	rectum
17	chr5:68391000-68391600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
18	chr5:68391000-68391800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:68391000-68391800	Enhancers	Primary T cells from cord blood	blood
20	chr5:68391000-68392000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr5:68391000-68392000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:68391000-68392000	Enhancers	Liver	Liver
23	chr5:68391000-68392000	Enhancers	Colon Smooth Muscle	Colon
24	chr5:68391000-68392000	Enhancers	Fetal Brain Male	brain
25	chr5:68391000-68392000	Genic enhancers	Fetal Intestine Small	intestine
26	chr5:68391000-68392000	Enhancers	Thymus	Thymus
27	chr5:68391000-68392000	Enhancers	HUVEC	blood vessel
28	chr5:68391000-68392200	Enhancers	Fetal Heart	heart
29	chr5:68391000-68392400	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr5:68391000-68392600	Enhancers	Brain Germinal Matrix	brain
31	chr5:68391000-68392800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr5:68391000-68393600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:68391000-68398800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:68391000-68399000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:68391000-68399000	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr5:68391000-68399000	Weak transcription	NHDF-Ad	bronchial
37	chr5:68391000-68399200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:68391000-68399200	Weak transcription	Fetal Kidney	kidney
39	chr5:68391000-68400600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:68391000-68401000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr5:68391000-68401000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr5:68391000-68402800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr5:68391000-68403000	Weak transcription	HSMMtube	muscle
44	chr5:68391000-68415200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr5:68391200-68391600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:68391200-68391600	Transcr. at gene 5' and 3'	Dnd41	blood
47	chr5:68391200-68391600	Flanking Active TSS	HepG2	liver
48	chr5:68391200-68391600	Enhancers	HMEC	breast
49	chr5:68391200-68391600	Genic enhancers	Osteobl	bone
50	chr5:68391200-68391800	Enhancers	Duodenum Smooth Muscle	Duodenum

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