Variant report

Variant	rs1975114
Chromosome Location	chr8:124721267-124721268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124717634..124720266-chr8:124720485..124724921,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10505441	1.00[EUR][1000 genomes]
rs11992243	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs11996113	1.00[EUR][1000 genomes]
rs11997211	1.00[EUR][1000 genomes]
rs16898743	1.00[EUR][1000 genomes]
rs16898756	1.00[EUR][1000 genomes]
rs16898765	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16898849	1.00[EUR][1000 genomes]
rs2018224	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34792899	1.00[EUR][1000 genomes]
rs4513954	1.00[EUR][1000 genomes]
rs57418226	1.00[EUR][1000 genomes]
rs58056715	1.00[EUR][1000 genomes]
rs58826471	1.00[EUR][1000 genomes]
rs58870794	1.00[EUR][1000 genomes]
rs6981655	1.00[EUR][1000 genomes]
rs6986577	1.00[EUR][1000 genomes]
rs6986749	1.00[EUR][1000 genomes]
rs6986773	1.00[EUR][1000 genomes]
rs7004529	1.00[EUR][1000 genomes]
rs7004798	1.00[EUR][1000 genomes]
rs7008452	1.00[EUR][1000 genomes]
rs73324246	1.00[EUR][1000 genomes]
rs7813635	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7819852	1.00[EUR][1000 genomes]
rs7820119	1.00[EUR][1000 genomes]
rs7833145	1.00[EUR][1000 genomes]
rs7833197	1.00[EUR][1000 genomes]
rs7840250	1.00[EUR][1000 genomes]
rs9694473	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124704600-124725400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:124707000-124727000	Strong transcription	Fetal Intestine Large	intestine
3	chr8:124718200-124724000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:124718600-124722000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:124718600-124725800	Strong transcription	Duodenum Mucosa	Duodenum
6	chr8:124718800-124731800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:124719000-124724600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:124720000-124721600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:124720000-124721800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:124720200-124721400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:124720200-124721400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:124720200-124721600	Enhancers	NHEK	skin
13	chr8:124720200-124722000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:124720400-124721400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:124720400-124721600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:124720400-124722000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:124720600-124721400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:124720600-124721400	Enhancers	HSMMtube	muscle
19	chr8:124720600-124721600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:124720800-124721400	Enhancers	HUVEC	blood vessel
21	chr8:124720800-124721600	Enhancers	Left Ventricle	heart
22	chr8:124720800-124721600	Enhancers	HMEC	breast
23	chr8:124720800-124726200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:124720800-124726400	Weak transcription	Esophagus	oesophagus
25	chr8:124720800-124726400	Strong transcription	Fetal Intestine Small	intestine
26	chr8:124721000-124721400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:124721000-124722000	Enhancers	HepG2	liver
28	chr8:124721000-124722200	Enhancers	Fetal Heart	heart
29	chr8:124721000-124724800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:124721200-124721400	Enhancers	NH-A	brain
31	chr8:124721200-124721600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr8:124721200-124721800	Enhancers	Osteobl	bone
33	chr8:124721200-124727200	Weak transcription	Fetal Stomach	stomach

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