Variant report

Variant	rs4901593
Chromosome Location	chr14:56057908-56057909
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56046133..56049502-chr14:56056634..56059783,4	MCF-7	breast:
2	chr14:56057726..56060571-chr14:56061645..56063881,2	K562	blood:
3	chr14:56057179..56059764-chr14:56063889..56065411,2	K562	blood:
4	chr14:56056459..56058091-chr14:56059741..56061406,2	MCF-7	breast:
5	chr14:56050224..56053643-chr14:56057156..56060698,4	MCF-7	breast:
6	chr14:56047540..56051954-chr14:56053859..56059782,6	K562	blood:

Variant related genes	Relation type
ENSG00000186615	Chromatin interaction
ENSG00000126777	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10136386	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10136408	0.88[ASN][1000 genomes]
rs10444721	0.80[CEU][hapmap]
rs12891489	0.88[ASN][1000 genomes]
rs12897227	0.80[CEU][hapmap]
rs34872770	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3736877	0.80[AMR][1000 genomes]
rs3783654	0.82[AMR][1000 genomes]
rs4386042	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4457912	0.83[EUR][1000 genomes]
rs4901592	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6573042	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6573054	0.80[CEU][hapmap]
rs8011252	0.83[EUR][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	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv901965	chr14:55976428-56101879	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56048200-56068400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:56048400-56068400	Weak transcription	Esophagus	oesophagus
3	chr14:56048400-56086000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:56048600-56058400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr14:56048600-56060400	Weak transcription	Brain Substantia Nigra	brain
6	chr14:56048600-56070800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:56051200-56058000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:56051200-56060200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr14:56051200-56066200	Weak transcription	Colonic Mucosa	Colon
10	chr14:56051200-56069000	Weak transcription	Primary B cells from cord blood	blood
11	chr14:56051400-56060200	Weak transcription	K562	blood
12	chr14:56051600-56059400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:56051600-56061600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:56052000-56066200	Weak transcription	Pancreas	Pancrea
15	chr14:56052000-56068400	Weak transcription	Left Ventricle	heart
16	chr14:56052000-56080200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr14:56053000-56059000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:56053200-56058000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:56053200-56059800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr14:56053200-56069400	Weak transcription	Aorta	Aorta
21	chr14:56054000-56058000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:56054000-56059600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:56054000-56060400	Weak transcription	Ovary	ovary
24	chr14:56054200-56058600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr14:56054400-56060200	Weak transcription	Fetal Kidney	kidney
26	chr14:56054600-56059000	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:56054800-56059200	Weak transcription	Fetal Intestine Large	intestine
28	chr14:56055000-56060200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:56055200-56058000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr14:56055200-56058200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr14:56055200-56066400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:56055200-56069200	Weak transcription	Primary T cells from cord blood	blood
33	chr14:56055400-56058600	Weak transcription	Liver	Liver
34	chr14:56055400-56058600	Weak transcription	Hela-S3	cervix
35	chr14:56055400-56058800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr14:56055400-56059000	Weak transcription	Small Intestine	intestine
37	chr14:56055400-56059200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:56055400-56059200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr14:56055400-56059400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:56055400-56061600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:56055400-56061600	Weak transcription	Fetal Intestine Small	intestine
42	chr14:56055400-56065800	Weak transcription	Fetal Lung	lung
43	chr14:56055800-56059400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr14:56055800-56060600	Weak transcription	NH-A	brain
45	chr14:56055800-56067200	Weak transcription	HSMMtube	muscle
46	chr14:56056000-56058800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr14:56056000-56059000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:56056000-56059200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr14:56056000-56059200	Weak transcription	Colon Smooth Muscle	Colon
50	chr14:56056000-56059400	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links