Variant report

Variant	rs56942057
Chromosome Location	chr3:51721161-51721162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:51720494..51723268-chr3:52015947..52017877,2	K562	blood:
2	chr3:51703853..51706723-chr3:51719737..51721404,2	K562	blood:

Variant related genes	Relation type
ENSG00000164081	Chromatin interaction
ENSG00000243989	Chromatin interaction
ENSG00000114779	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs12330534	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13314120	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13321674	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13433729	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17051799	0.85[AMR][1000 genomes]
rs17051832	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17081501	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28421789	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28452990	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28457212	0.85[AMR][1000 genomes]
rs28653367	0.85[AMR][1000 genomes]
rs2883900	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4549265	0.85[AMR][1000 genomes]
rs59064710	1.00[ASN][1000 genomes]
rs59525691	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60823123	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61440245	1.00[ASN][1000 genomes]
rs61737032	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951441	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951452	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951472	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951485	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951486	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72953413	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72953417	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72953419	1.00[ASN][1000 genomes]
rs72953421	1.00[ASN][1000 genomes]
rs72953423	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72953429	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7627636	1.00[ASN][1000 genomes]
rs904144	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9311470	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9808940	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9809757	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9812008	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9812682	1.00[ASN][1000 genomes]
rs9815684	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9816075	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9824779	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9826664	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9827665	0.85[AMR][1000 genomes]
rs9827917	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9838294	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9838942	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9838994	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9839516	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9839608	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9842066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9844541	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9846343	1.00[ASN][1000 genomes]
rs9855809	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9857893	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9864952	1.00[ASN][1000 genomes]
rs9866513	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9866604	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9870147	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9875460	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9880050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9880909	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9881402	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9881844	0.85[AMR][1000 genomes]
rs9882601	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9990341	0.85[AMR][1000 genomes];1.00[ASN][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	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv1814919	chr3:51703488-51752684	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51706400-51733400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:51706400-51741000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:51706600-51721200	Weak transcription	Fetal Brain Male	brain
4	chr3:51706600-51724600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr3:51706600-51739600	Weak transcription	Small Intestine	intestine
6	chr3:51707800-51740400	Strong transcription	Fetal Intestine Small	intestine
7	chr3:51708800-51738800	Strong transcription	Fetal Intestine Large	intestine
8	chr3:51714000-51722400	Enhancers	Right Atrium	heart
9	chr3:51714400-51722200	Genic enhancers	Fetal Muscle Leg	muscle
10	chr3:51714400-51722400	Genic enhancers	Fetal Muscle Trunk	muscle
11	chr3:51715800-51721400	Genic enhancers	Fetal Thymus	thymus
12	chr3:51716200-51726200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr3:51716200-51737000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:51716400-51722600	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr3:51716400-51741200	Weak transcription	Fetal Kidney	kidney
16	chr3:51716600-51722600	Strong transcription	HepG2	liver
17	chr3:51716600-51722800	Genic enhancers	Spleen	Spleen
18	chr3:51716600-51724800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr3:51716800-51726600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:51716800-51738800	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:51717000-51727400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:51717400-51739800	Strong transcription	Liver	Liver
23	chr3:51717600-51721600	Strong transcription	Fetal Brain Female	brain
24	chr3:51717600-51723800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:51717800-51722800	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr3:51717800-51725200	Strong transcription	Gastric	stomach
27	chr3:51718000-51722400	Strong transcription	Brain Germinal Matrix	brain
28	chr3:51718000-51722800	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr3:51718000-51726800	Strong transcription	Pancreas	Pancrea
30	chr3:51718400-51722600	Strong transcription	Aorta	Aorta
31	chr3:51718600-51721600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr3:51718600-51722400	Strong transcription	Rectal Smooth Muscle	rectum
33	chr3:51719000-51721400	Genic enhancers	Duodenum Mucosa	Duodenum
34	chr3:51719000-51721400	Genic enhancers	Dnd41	blood
35	chr3:51719000-51722400	Enhancers	Left Ventricle	heart
36	chr3:51719200-51721400	Genic enhancers	GM12878-XiMat	blood
37	chr3:51719200-51721600	Weak transcription	Ovary	ovary
38	chr3:51719400-51721600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr3:51719400-51722000	Enhancers	Primary hematopoietic stem cells	blood
40	chr3:51719600-51721400	Genic enhancers	Primary monocytes fromperipheralblood	blood
41	chr3:51719600-51722000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:51719600-51722000	Genic enhancers	Brain Inferior Temporal Lobe	brain
43	chr3:51719600-51726000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:51719600-51741200	Weak transcription	NHDF-Ad	bronchial
45	chr3:51719800-51721200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr3:51719800-51721200	Enhancers	Stomach Mucosa	stomach
47	chr3:51719800-51721400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:51719800-51721400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:51719800-51721400	Genic enhancers	Placenta	Placenta
50	chr3:51719800-51721600	Flanking Active TSS	Primary T cells from cord blood	blood

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