Variant report

Variant	rs56138738
Chromosome Location	chr1:226364121-226364122
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226363165..226364851-chr1:226366680..226369464,2	MCF-7	breast:
2	chr1:226346626..226351068-chr1:226361955..226365642,5	K562	blood:
3	chr1:226358815..226361427-chr1:226363128..226364721,2	K562	blood:
4	chr1:226358815..226361446-chr1:226363128..226365124,4	K562	blood:
5	chr1:226248864..226251737-chr1:226362725..226364782,2	K562	blood:
6	chr1:226361074..226366865-chr1:226367198..226369813,7	K562	blood:

Variant related genes	Relation type
ENSG00000182827	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000272562	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11584966	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584969	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587381	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41303309	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759078	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72762700	1.00[ASN][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	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56138738	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226324000-226372800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:226340400-226369600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:226347000-226369600	Weak transcription	Psoas Muscle	Psoas
4	chr1:226348800-226365200	Weak transcription	NHEK	skin
5	chr1:226349000-226366400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:226349000-226373400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:226349400-226369200	Weak transcription	Fetal Heart	heart
8	chr1:226349800-226366400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:226350000-226370200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:226350000-226373200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:226350600-226369000	Weak transcription	Hela-S3	cervix
12	chr1:226350800-226369600	Weak transcription	Right Ventricle	heart
13	chr1:226351000-226369800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:226352200-226372800	Weak transcription	Fetal Kidney	kidney
15	chr1:226352400-226365200	Weak transcription	HMEC	breast
16	chr1:226352400-226368200	Weak transcription	HSMM	muscle
17	chr1:226352600-226365200	Weak transcription	A549	lung
18	chr1:226352600-226369200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:226352600-226370000	Weak transcription	Fetal Brain Female	brain
20	chr1:226352600-226370400	Weak transcription	Brain Angular Gyrus	brain
21	chr1:226352600-226372200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:226352600-226372400	Weak transcription	Brain Anterior Caudate	brain
23	chr1:226352600-226372800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:226352600-226373000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:226352600-226373400	Weak transcription	Esophagus	oesophagus
26	chr1:226352800-226365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:226352800-226372000	Weak transcription	Colonic Mucosa	Colon
28	chr1:226353000-226369400	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:226353000-226369600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:226353000-226370200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:226353000-226372000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:226353200-226365000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:226353200-226365600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr1:226353200-226369600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:226353200-226372000	Weak transcription	HUVEC	blood vessel
36	chr1:226353400-226372400	Weak transcription	Brain Germinal Matrix	brain
37	chr1:226353600-226368800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:226353600-226369000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:226353600-226369600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:226353600-226369600	Weak transcription	Fetal Lung	lung
41	chr1:226353600-226369800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:226353600-226372000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:226353800-226367600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:226353800-226368000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:226353800-226368000	Weak transcription	Fetal Thymus	thymus
46	chr1:226353800-226368800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:226353800-226368800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:226353800-226369000	Weak transcription	Liver	Liver
49	chr1:226353800-226369600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr1:226353800-226370000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links