Variant report

Variant	rs1175639
Chromosome Location	chr1:112996781-112996782
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:112996718..113000080-chr1:113160996..113163127,3	K562	blood:

Variant related genes	Relation type
ENSG00000007341	Chromatin interaction
ENSG00000116489	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1175624	0.80[AFR][1000 genomes]
rs1175627	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1175628	0.80[AFR][1000 genomes]
rs1175637	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs1175640	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs1175642	1.00[ASW][hapmap];0.82[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs1175643	0.80[AFR][1000 genomes]
rs1175644	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1759691	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1777621	0.80[AFR][1000 genomes]
rs2483347	0.80[AFR][1000 genomes]
rs2780274	1.00[AFR][1000 genomes]
rs2780276	1.00[YRI][hapmap];0.80[AFR][1000 genomes]

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	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112957600-112997600	Weak transcription	Brain Anterior Caudate	brain
2	chr1:112960000-112996800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:112974000-112997000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:112979600-112998600	Weak transcription	Right Ventricle	heart
5	chr1:112979600-112998600	Weak transcription	Spleen	Spleen
6	chr1:112981000-112997200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:112981400-113006000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:112981600-112999000	Weak transcription	Brain Substantia Nigra	brain
9	chr1:112982000-112996800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:112982000-112998800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:112982600-112998600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:112982800-112998800	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:112986400-112998600	Weak transcription	Aorta	Aorta
14	chr1:112987800-112996800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:112987800-112998600	Weak transcription	Gastric	stomach
16	chr1:112988600-112998200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:112988600-113004200	Weak transcription	Fetal Heart	heart
18	chr1:112988800-112998200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:112988800-113008400	Weak transcription	A549	lung
20	chr1:112989400-112998200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:112989400-112998800	Weak transcription	GM12878-XiMat	blood
22	chr1:112989400-112999200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:112989600-113004000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:112990000-113002800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:112990200-112999000	Weak transcription	HepG2	liver
26	chr1:112990400-113001600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:112990600-112999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:112990600-113002000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:112990600-113004600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:112990800-112998600	Weak transcription	Esophagus	oesophagus
31	chr1:112991000-112997000	Weak transcription	Dnd41	blood
32	chr1:112991000-112998600	Weak transcription	Pancreas	Pancrea
33	chr1:112991400-112997200	Weak transcription	Fetal Brain Male	brain
34	chr1:112991400-112998800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:112992000-112998200	Weak transcription	NHEK	skin
36	chr1:112992600-112997200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:112992800-112997000	Weak transcription	Hela-S3	cervix
38	chr1:112993000-112996800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:112993000-112996800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:112993000-112998400	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:112993200-112998800	Weak transcription	Brain Angular Gyrus	brain
42	chr1:112993800-112999000	Weak transcription	Stomach Mucosa	stomach
43	chr1:112994000-112997200	Strong transcription	Fetal Stomach	stomach
44	chr1:112994000-112998600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:112994000-113000200	Strong transcription	Fetal Intestine Small	intestine
46	chr1:112994200-112996800	Weak transcription	NHDF-Ad	bronchial
47	chr1:112994200-113002000	Strong transcription	Fetal Intestine Large	intestine
48	chr1:112994400-112997200	Weak transcription	Ovary	ovary
49	chr1:112994400-112997800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:112994400-112998600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links