Variant report

Variant	rs58431458
Chromosome Location	chr1:174132750-174132751
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr1:174132546-174132873	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:174118352..174120920-chr1:174131229..174132770,2	MCF-7	breast:
2	chr1:174126500..174130155-chr1:174130504..174133704,4	MCF-7	breast:
3	chr1:174132422..174134111-chr1:174800626..174802567,2	K562	blood:
4	chr1:174127362..174130761-chr1:174131482..174135069,5	MCF-7	breast:
5	chr1:174132073..174134827-chr1:174138516..174140914,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227373	TF binding region
ENSG00000227373	Chromatin interaction
ENSG00000152061	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	nsv465661	chr1:174014507-174152688	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv548193	chr1:174014507-174152688	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv1008314	chr1:174080192-174311023	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv535207	chr1:174080192-174311023	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv1799250	chr1:174119038-174484277	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	esv1800060	chr1:174132703-174501836	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	esv2101854	chr1:174132750-174132751	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174129600-174134000	Weak transcription	Stomach Mucosa	stomach
2	chr1:174129600-174164800	Weak transcription	Gastric	stomach
3	chr1:174129600-174173200	Weak transcription	Pancreas	Pancrea
4	chr1:174129800-174133200	Weak transcription	Small Intestine	intestine
5	chr1:174129800-174134800	Weak transcription	Ovary	ovary
6	chr1:174129800-174135000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:174129800-174135000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:174129800-174135000	Weak transcription	Spleen	Spleen
9	chr1:174129800-174137000	Weak transcription	Fetal Lung	lung
10	chr1:174129800-174145600	Weak transcription	Fetal Thymus	thymus
11	chr1:174129800-174147000	Weak transcription	Fetal Brain Male	brain
12	chr1:174129800-174149600	Weak transcription	Aorta	Aorta
13	chr1:174130000-174133200	Weak transcription	Colonic Mucosa	Colon
14	chr1:174130000-174133200	Weak transcription	Fetal Intestine Large	intestine
15	chr1:174130000-174133200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:174130000-174133600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:174130000-174134800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:174130000-174134800	Weak transcription	Adipose Nuclei	Adipose
19	chr1:174130000-174134800	Weak transcription	Liver	Liver
20	chr1:174130000-174134800	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:174130000-174135400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:174130000-174135400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:174130000-174135800	Weak transcription	Right Ventricle	heart
24	chr1:174130000-174136200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:174130000-174144400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:174130000-174157600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:174130200-174133000	Weak transcription	Fetal Intestine Small	intestine
28	chr1:174130200-174133200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:174130200-174133200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:174130200-174133400	Weak transcription	A549	lung
31	chr1:174130200-174135200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:174130200-174135400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr1:174130200-174138000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:174130200-174143200	Weak transcription	Primary B cells from cord blood	blood
35	chr1:174130200-174145000	Weak transcription	NHEK	skin
36	chr1:174130200-174145600	Weak transcription	Fetal Stomach	stomach
37	chr1:174130200-174147400	Weak transcription	Hela-S3	cervix
38	chr1:174130800-174134800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:174130800-174138200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:174130800-174156600	Weak transcription	Primary T cells from cord blood	blood
41	chr1:174131000-174135400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:174131200-174133200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:174131200-174134600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:174131200-174135000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr1:174131200-174138800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:174131400-174136600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:174131800-174133000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:174131800-174133000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr1:174131800-174133000	Weak transcription	Fetal Heart	heart
50	chr1:174131800-174133200	Weak transcription	HepG2	liver

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