Variant report

Variant	rs57878960
Chromosome Location	chr1:113495986-113495987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr1:113495977-113497191	K562	blood:	n/a	n/a
2	HEY1	chr1:113495491-113496000	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113470982..113473508-chr1:113495282..113498149,2	K562	blood:
2	chr1:113459369..113469193-chr1:113493855..113500263,12	K562	blood:
3	chr1:113495044..113497639-chr1:113562401..113565157,2	K562	blood:
4	chr1:113467781..113469713-chr1:113495884..113497441,2	K562	blood:
5	chr1:113476476..113482692-chr1:113494893..113501777,18	K562	blood:
6	chr1:113417890..113419473-chr1:113495009..113497982,2	K562	blood:
7	chr1:113495059..113500488-chr1:113613593..113618010,11	K562	blood:
8	chr1:113493791..113500715-chr1:113613796..113618010,15	K562	blood:
9	chr1:113495708..113498262-chr1:114506476..114508244,2	K562	blood:
10	chr1:113495642..113498034-chr1:114469610..114473117,3	K562	blood:

No data

Variant related genes	Relation type
SLC16A1-AS1	TF binding region
ENSG00000235527	Chromatin interaction
ENSG00000198799	Chromatin interaction
ENSG00000155380	Chromatin interaction
ENSG00000238198	Chromatin interaction
ENSG00000163349	Chromatin interaction
ENSG00000229020	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3849175	1.00[AMR][1000 genomes]
rs56161739	1.00[AMR][1000 genomes]
rs6680285	0.81[AFR][1000 genomes]
rs7512840	1.00[AMR][1000 genomes]
rs7519199	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
10	esv3399982	chr1:113358580-113542255	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
11	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats 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	69 gene(s)	inside rSNPs	diseases
12	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
13	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113466400-113496400	Weak transcription	Primary T cells from cord blood	blood
2	chr1:113467000-113497400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:113467200-113496400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:113468000-113496200	Weak transcription	Fetal Brain Female	brain
5	chr1:113469800-113497000	Weak transcription	Fetal Stomach	stomach
6	chr1:113481000-113496200	Weak transcription	Brain Angular Gyrus	brain
7	chr1:113481000-113496200	Weak transcription	Fetal Intestine Small	intestine
8	chr1:113481000-113496400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:113481200-113496200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:113481200-113496200	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:113481200-113496200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:113481200-113496200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:113481200-113496400	Weak transcription	A549	lung
14	chr1:113481400-113496000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:113481400-113496200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:113481400-113496200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:113481400-113497000	Weak transcription	Osteobl	bone
18	chr1:113484200-113496200	Weak transcription	HSMMtube	muscle
19	chr1:113490600-113496200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:113491400-113496200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:113491400-113496400	Weak transcription	Right Atrium	heart
22	chr1:113491800-113496200	Enhancers	Fetal Heart	heart
23	chr1:113492600-113498000	Weak transcription	Pancreas	Pancrea
24	chr1:113493000-113496400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:113493400-113496200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:113493400-113496400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:113493400-113496600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:113493400-113497800	Weak transcription	Esophagus	oesophagus
29	chr1:113493600-113496200	Weak transcription	Right Ventricle	heart
30	chr1:113493600-113496600	Weak transcription	Left Ventricle	heart
31	chr1:113493800-113497000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
32	chr1:113494000-113497000	Transcr. at gene 5' and 3'	K562	blood
33	chr1:113494000-113497600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
34	chr1:113494000-113497800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:113494000-113497800	Weak transcription	Small Intestine	intestine
36	chr1:113494200-113496400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr1:113494200-113497800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
38	chr1:113494400-113496200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:113494400-113496400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:113494400-113496400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:113494400-113496600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:113494600-113497200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
43	chr1:113494800-113496000	Genic enhancers	HUVEC	blood vessel
44	chr1:113494800-113496200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:113494800-113496800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
46	chr1:113495000-113496200	Strong transcription	HSMM	muscle
47	chr1:113495000-113497200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:113495000-113497800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:113495200-113501400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:113495400-113496400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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