Variant report

Variant	rs2555588
Chromosome Location	chr8:67369355-67369356
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:67369237-67369393	K562	blood:	n/a	n/a
2	POLR2A	chr8:67368532-67369459	IMR90	lung:	n/a	n/a
3	CTCF	chr8:67369330-67369418	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:67367251..67370240-chr8:67562662..67564942,2	K562	blood:
2	chr8:67368485..67371409-chr8:67521786..67525460,5	MCF-7	breast:
3	chr8:67365709..67368396-chr8:67368954..67371561,2	MCF-7	breast:

Variant related genes	Relation type
C8orf46	TF binding region
ADHFE1	TF binding region
ENSG00000147576	Chromatin interaction
ENSG00000185697	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17405528	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2433593	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2433594	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2465983	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2555563	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2555564	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2555567	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2555573	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2555576	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2555579	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2555589	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2718989	0.93[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2718997	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2718998	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56256543	0.84[AMR][1000 genomes]
rs60331121	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62511170	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62511216	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62511222	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7014306	1.00[CEU][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv6236	chr8:67359312-67403981	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2555588	ADHFE1	cis	Thyroid	GTEx
rs2555588	ADHFE1	cis	Artery Tibial	GTEx

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67353600-67372400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:67356200-67374400	Strong transcription	Liver	Liver
3	chr8:67359000-67372200	Weak transcription	HSMMtube	muscle
4	chr8:67359200-67370200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:67359200-67370400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:67359400-67384400	Weak transcription	Fetal Kidney	kidney
7	chr8:67360000-67369600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:67360600-67369600	Strong transcription	Brain Hippocampus Middle	brain
9	chr8:67360800-67369400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:67360800-67369400	Strong transcription	Fetal Muscle Leg	muscle
11	chr8:67361200-67373800	Strong transcription	Fetal Intestine Small	intestine
12	chr8:67361400-67377400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:67361600-67374400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:67364200-67369600	Strong transcription	Fetal Stomach	stomach
15	chr8:67364400-67375800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:67364600-67373400	Weak transcription	Spleen	Spleen
17	chr8:67364600-67378800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:67364800-67384000	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:67365200-67374600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:67365200-67377400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:67365400-67372400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:67365400-67383800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:67365600-67372200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:67365600-67372200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:67365600-67375400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:67365800-67370200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr8:67365800-67370200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:67365800-67372400	Weak transcription	Brain Angular Gyrus	brain
29	chr8:67365800-67379600	Weak transcription	Esophagus	oesophagus
30	chr8:67366000-67370400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:67366000-67370600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:67366000-67372200	Weak transcription	Brain Anterior Caudate	brain
33	chr8:67366000-67373400	Weak transcription	Gastric	stomach
34	chr8:67366000-67374000	Weak transcription	Right Ventricle	heart
35	chr8:67366000-67376600	Weak transcription	Right Atrium	heart
36	chr8:67366200-67370200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr8:67366400-67371400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:67366400-67372200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr8:67366400-67372200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:67366400-67373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:67367000-67369400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:67367200-67369400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:67367200-67369400	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:67367200-67369600	Strong transcription	Brain Cingulate Gyrus	brain
45	chr8:67367200-67370800	Strong transcription	Pancreas	Pancrea
46	chr8:67367400-67369800	Strong transcription	Adipose Nuclei	Adipose
47	chr8:67367600-67369400	Genic enhancers	Placenta	Placenta
48	chr8:67367600-67371000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr8:67367600-67371200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr8:67367600-67372200	Weak transcription	Brain Inferior Temporal Lobe	brain

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