Variant report

Variant	rs55708440
Chromosome Location	chr8:124251556-124251557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124250772..124255194-chr8:124284813..124288648,11	K562	blood:
2	chr8:124251434..124255040-chr8:124407167..124409699,3	MCF-7	breast:
3	chr8:124242969..124246444-chr8:124250871..124254572,7	K562	blood:
4	chr8:124250772..124256316-chr8:124284832..124288905,10	K562	blood:
5	chr8:124193513..124196464-chr8:124251453..124254770,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165156	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000189376	Chromatin interaction
ENSG00000147689	Chromatin interaction
ENSG00000253258	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11985341	1.00[EUR][1000 genomes]
rs11990683	1.00[EUR][1000 genomes]
rs11990772	1.00[EUR][1000 genomes]
rs11994660	1.00[EUR][1000 genomes]
rs16898127	1.00[EUR][1000 genomes]
rs16898165	1.00[EUR][1000 genomes]
rs59355895	1.00[EUR][1000 genomes]
rs59413499	1.00[EUR][1000 genomes]
rs61288481	1.00[EUR][1000 genomes]
rs6989437	1.00[EUR][1000 genomes]
rs6996427	1.00[EUR][1000 genomes]
rs7000925	1.00[EUR][1000 genomes]
rs73703766	1.00[EUR][1000 genomes]
rs73703768	1.00[EUR][1000 genomes]
rs73703779	1.00[EUR][1000 genomes]
rs73703788	1.00[EUR][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	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124220200-124252800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:124229000-124252200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:124229400-124252000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:124234600-124252400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:124235200-124252400	Weak transcription	Psoas Muscle	Psoas
6	chr8:124239400-124251600	Strong transcription	Fetal Thymus	thymus
7	chr8:124242000-124252400	Weak transcription	Fetal Kidney	kidney
8	chr8:124243800-124251800	Weak transcription	Colonic Mucosa	Colon
9	chr8:124246400-124251600	Strong transcription	NHEK	skin
10	chr8:124247400-124252400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:124248000-124252400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:124248200-124251800	Strong transcription	Fetal Muscle Leg	muscle
13	chr8:124248200-124252200	Weak transcription	Right Atrium	heart
14	chr8:124248400-124252400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr8:124248400-124252400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:124248600-124251800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:124248600-124252200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:124248600-124252200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:124248600-124252200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:124248600-124252400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:124248600-124252400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:124248600-124252400	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:124248600-124252400	Weak transcription	Brain Substantia Nigra	brain
24	chr8:124248600-124252400	Weak transcription	NH-A	brain
25	chr8:124249200-124251600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:124249400-124251800	Weak transcription	Brain Germinal Matrix	brain
27	chr8:124249400-124252000	Weak transcription	Primary B cells from cord blood	blood
28	chr8:124249400-124252400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:124249400-124252400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:124249600-124251800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:124249600-124251800	Weak transcription	Spleen	Spleen
32	chr8:124249600-124252000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr8:124249600-124252400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:124249600-124252400	Weak transcription	Aorta	Aorta
35	chr8:124249600-124252400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:124249600-124252400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:124249600-124252400	Weak transcription	Lung	lung
38	chr8:124249600-124252600	Weak transcription	Esophagus	oesophagus
39	chr8:124249600-124252800	Weak transcription	Pancreas	Pancrea
40	chr8:124249800-124251600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr8:124249800-124251800	Weak transcription	Fetal Brain Female	brain
42	chr8:124249800-124252400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:124250000-124252400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr8:124250200-124251800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:124250200-124251800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:124250200-124251800	Weak transcription	HMEC	breast
47	chr8:124250200-124251800	Weak transcription	HUVEC	blood vessel
48	chr8:124250200-124252000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:124250200-124252000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:124250200-124252000	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links