Variant report

Variant	rs55844983
Chromosome Location	chr8:104056042-104056043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104042210..104044576-chr8:104054551..104056917,2	K562	blood:
2	chr8:103873494..103876467-chr8:104054286..104057036,2	MCF-7	breast:
3	chr8:104055896..104058262-chr8:104063219..104065356,2	MCF-7	breast:
4	chr8:104049341..104051430-chr8:104055477..104057533,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155096	Chromatin interaction
ENSG00000155097	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1512351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17199777	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17200931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3808549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808551	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55635754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55649874	0.86[EUR][1000 genomes]
rs56224531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56249406	0.85[AMR][1000 genomes]
rs56370378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57059899	0.86[EUR][1000 genomes]
rs57205128	0.86[EUR][1000 genomes]
rs72667277	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72667278	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72667279	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72667281	0.86[EUR][1000 genomes]
rs72667282	0.86[EUR][1000 genomes]
rs72667289	0.86[EUR][1000 genomes]
rs72667290	0.86[EUR][1000 genomes]
rs72667292	0.86[EUR][1000 genomes]
rs72667301	0.90[EUR][1000 genomes]
rs72669305	0.90[EUR][1000 genomes]
rs72669319	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669327	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669337	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669354	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72669356	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73288580	0.86[EUR][1000 genomes]
rs7844885	0.90[EUR][1000 genomes]
rs7844974	0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55844983	ATP6V1C1	cis	Whole Blood	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104034200-104068800	Weak transcription	Small Intestine	intestine
2	chr8:104034400-104059400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:104034400-104069400	Weak transcription	Esophagus	oesophagus
4	chr8:104034600-104059800	Weak transcription	A549	lung
5	chr8:104034600-104063600	Weak transcription	HSMMtube	muscle
6	chr8:104034600-104068400	Weak transcription	Right Ventricle	heart
7	chr8:104034800-104058800	Weak transcription	HSMM	muscle
8	chr8:104034800-104058800	Weak transcription	NH-A	brain
9	chr8:104034800-104065600	Weak transcription	Fetal Kidney	kidney
10	chr8:104034800-104074600	Weak transcription	NHEK	skin
11	chr8:104035400-104061800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:104035400-104071200	Weak transcription	Brain Angular Gyrus	brain
13	chr8:104035800-104059400	Weak transcription	Thymus	Thymus
14	chr8:104035800-104061800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:104036000-104056600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:104036200-104065200	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:104036800-104061200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:104037200-104063400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr8:104037200-104071400	Weak transcription	Fetal Brain Female	brain
20	chr8:104038000-104066800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:104038400-104059400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:104038600-104059400	Weak transcription	Gastric	stomach
23	chr8:104039000-104069400	Weak transcription	Spleen	Spleen
24	chr8:104039800-104061200	Weak transcription	GM12878-XiMat	blood
25	chr8:104040200-104071400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:104040600-104071400	Weak transcription	Pancreas	Pancrea
27	chr8:104041000-104059200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:104043800-104068200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr8:104044000-104058400	Weak transcription	Fetal Intestine Small	intestine
30	chr8:104044000-104066400	Weak transcription	HMEC	breast
31	chr8:104046000-104068000	Weak transcription	NHLF	lung
32	chr8:104048400-104063800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:104048600-104059400	Weak transcription	Lung	lung
34	chr8:104049600-104059000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr8:104050200-104059200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr8:104050400-104069200	Weak transcription	Aorta	Aorta
37	chr8:104050400-104086000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr8:104050600-104059200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:104050600-104066600	Weak transcription	Ovary	ovary
40	chr8:104050600-104089600	Weak transcription	Psoas Muscle	Psoas
41	chr8:104050800-104061400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr8:104050800-104062400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr8:104050800-104067800	Weak transcription	Brain Substantia Nigra	brain
44	chr8:104050800-104069800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:104051600-104087400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr8:104051800-104058800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr8:104052600-104065400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:104052600-104066600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr8:104052800-104082200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr8:104053000-104056200	Strong transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links