Variant report

Variant	rs7840250
Chromosome Location	chr8:124706248-124706249
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124705081..124707705-chr8:124777857..124780105,2	MCF-7	breast:
2	chr8:124497449..124501103-chr8:124705161..124707285,5	MCF-7	breast:
3	chr8:124510177..124512416-chr8:124704489..124706566,2	MCF-7	breast:
4	chr8:124500072..124500754-chr8:124705569..124706580,3	MCF-7	breast:
5	chr8:124497637..124499570-chr8:124705281..124707002,40	MCF-7	breast:
6	chr8:124474750..124475700-chr8:124705653..124706300,2	MCF-7	breast:
7	chr8:124498534..124499471-chr8:124705766..124706884,10	MCF-7	breast:
8	chr8:124674966..124677669-chr8:124704647..124706640,2	MCF-7	breast:
9	chr8:124705717..124707673-chr8:124709259..124711707,2	K562	blood:
10	chr8:124705928..124706441-chr8:124774905..124775641,2	MCF-7	breast:
11	chr8:124551901..124554787-chr8:124705917..124707799,2	MCF-7	breast:
12	chr8:124704299..124706961-chr8:124708389..124710569,2	MCF-7	breast:
13	chr8:106436810..106437768-chr8:124705764..124706621,2	MCF-7	breast:
14	chr8:124572458..124577349-chr8:124702422..124707183,6	MCF-7	breast:
15	chr8:124643258..124644911-chr8:124705316..124706852,2	MCF-7	breast:
16	chr8:124699483..124702834-chr8:124703972..124707489,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000156804	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10505441	1.00[EUR][1000 genomes]
rs11996113	1.00[EUR][1000 genomes]
rs11997211	1.00[EUR][1000 genomes]
rs16898743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16898756	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16898765	1.00[EUR][1000 genomes]
rs16898849	1.00[EUR][1000 genomes]
rs1975114	1.00[EUR][1000 genomes]
rs34792899	1.00[EUR][1000 genomes]
rs4513954	1.00[EUR][1000 genomes]
rs57418226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58056715	1.00[EUR][1000 genomes]
rs58826471	1.00[AMR][1000 genomes];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	1.00[EUR][1000 genomes]
rs7819852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833145	1.00[EUR][1000 genomes]
rs7833197	1.00[EUR][1000 genomes]
rs9694473	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124693200-124706800	Enhancers	Fetal Stomach	stomach
2	chr8:124694200-124707400	Enhancers	Colon Smooth Muscle	Colon
3	chr8:124696200-124707400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:124696400-124707400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:124697800-124706800	Enhancers	Fetal Heart	heart
6	chr8:124698800-124706600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:124698800-124706800	Enhancers	HMEC	breast
8	chr8:124698800-124707200	Enhancers	HSMMtube	muscle
9	chr8:124701200-124707600	Enhancers	Rectal Smooth Muscle	rectum
10	chr8:124701600-124706400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:124701600-124707200	Enhancers	HepG2	liver
12	chr8:124701600-124707400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:124701800-124706600	Enhancers	Brain Hippocampus Middle	brain
14	chr8:124702000-124706600	Enhancers	Fetal Lung	lung
15	chr8:124702000-124706600	Enhancers	HSMM	muscle
16	chr8:124702000-124706600	Enhancers	NH-A	brain
17	chr8:124702000-124706800	Enhancers	NHEK	skin
18	chr8:124702200-124706600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:124702200-124706600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:124702200-124706600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr8:124702200-124707200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:124702200-124708200	Genic enhancers	Fetal Intestine Small	intestine
23	chr8:124702400-124706600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:124702400-124706800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:124702400-124706800	Enhancers	Osteobl	bone
26	chr8:124702600-124706800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:124703200-124706400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:124703200-124706600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr8:124703200-124706800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr8:124703200-124708600	Weak transcription	Right Atrium	heart
31	chr8:124703200-124714000	Weak transcription	Small Intestine	intestine
32	chr8:124703400-124708000	Enhancers	Brain Substantia Nigra	brain
33	chr8:124703400-124712200	Weak transcription	Aorta	Aorta
34	chr8:124703400-124712600	Weak transcription	Psoas Muscle	Psoas
35	chr8:124704200-124706800	Enhancers	HUVEC	blood vessel
36	chr8:124704400-124706600	Enhancers	Brain Cingulate Gyrus	brain
37	chr8:124704400-124706800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr8:124704400-124707000	Genic enhancers	Duodenum Mucosa	Duodenum
39	chr8:124704600-124725400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr8:124705000-124706400	Enhancers	Brain Anterior Caudate	brain
41	chr8:124705000-124706600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr8:124705000-124706800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:124705000-124706800	Enhancers	NHLF	lung
44	chr8:124705000-124707400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:124705200-124706600	Enhancers	Brain Angular Gyrus	brain
46	chr8:124705200-124707000	Genic enhancers	Fetal Intestine Large	intestine
47	chr8:124705400-124706600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:124705400-124706600	Enhancers	A549	lung
49	chr8:124705400-124706800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:124705600-124706600	Weak transcription	Fetal Muscle Trunk	muscle

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