Variant report

Variant	rs7709865
Chromosome Location	chr5:126364701-126364702
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126113643..126115692-chr5:126362942..126365785,2	K562	blood:
2	chr5:126181847..126184918-chr5:126362668..126365476,3	K562	blood:
3	chr5:126364290..126367111-chr5:126408529..126412360,4	MCF-7	breast:
4	chr5:126364050..126367985-chr5:126407589..126410597,4	K562	blood:
5	chr5:126362711..126365443-chr5:126540946..126543546,2	MCF-7	breast:
6	chr5:126112502..126115238-chr5:126364683..126367658,2	MCF-7	breast:
7	chr5:126112473..126115233-chr5:126364397..126368675,4	K562	blood:

Variant related genes	Relation type
ENSG00000164241	Chromatin interaction
ENSG00000113368	Chromatin interaction

Extended variants
information (count: 172 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:170)

rs_ID	r²[population]
rs10040840	1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10075097	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10519920	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12652390	0.84[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap]
rs12652417	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12653000	0.85[JPT][hapmap]
rs12653444	1.00[ASN][1000 genomes]
rs12653823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12654717	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs12654725	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12654808	0.84[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap]
rs12655006	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12655223	0.82[GIH][hapmap]
rs12655258	1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12655319	0.85[JPT][hapmap]
rs12655435	1.00[ASN][1000 genomes]
rs12655699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12655726	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12655928	0.82[JPT][hapmap]
rs12655991	0.84[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap]
rs12656223	0.85[ASW][hapmap];1.00[CEU][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12656537	0.82[JPT][hapmap]
rs12656837	1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12658138	1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12658174	0.84[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap]
rs12658599	0.85[JPT][hapmap]
rs12658822	0.84[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap]
rs12659476	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12659614	0.84[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap]
rs12659633	0.89[ASN][1000 genomes]
rs17165213	0.89[GIH][hapmap]
rs17165228	0.84[CHD][hapmap];0.85[JPT][hapmap]
rs17165234	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17165236	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17165239	0.86[ASN][1000 genomes]
rs17165244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17165248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17165249	0.84[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap]
rs17165251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34416835	0.96[ASN][1000 genomes]
rs34738240	0.96[ASN][1000 genomes]
rs35566904	0.96[ASN][1000 genomes]
rs36091921	0.96[ASN][1000 genomes]
rs3812061	0.84[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap]
rs4141169	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4141170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55792418	0.96[ASN][1000 genomes]
rs55802546	1.00[ASN][1000 genomes]
rs56073877	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56094173	0.96[ASN][1000 genomes]
rs56122855	0.93[ASN][1000 genomes]
rs56124224	0.89[ASN][1000 genomes]
rs56272610	1.00[ASN][1000 genomes]
rs56279346	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56688052	0.96[ASN][1000 genomes]
rs56786115	0.96[ASN][1000 genomes]
rs57032367	0.96[ASN][1000 genomes]
rs57285842	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57485054	0.89[ASN][1000 genomes]
rs57833976	0.96[ASN][1000 genomes]
rs57915728	1.00[ASN][1000 genomes]
rs58030771	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58164143	0.89[ASN][1000 genomes]
rs58249730	0.96[ASN][1000 genomes]
rs58262537	0.96[ASN][1000 genomes]
rs58527455	1.00[ASN][1000 genomes]
rs58646561	0.96[ASN][1000 genomes]
rs58754116	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59459356	0.96[ASN][1000 genomes]
rs59643871	0.96[ASN][1000 genomes]
rs59676931	0.96[ASN][1000 genomes]
rs59770843	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59814275	0.96[ASN][1000 genomes]
rs60138815	0.96[ASN][1000 genomes]
rs60615137	0.96[ASN][1000 genomes]
rs60781824	0.96[ASN][1000 genomes]
rs60889784	0.96[ASN][1000 genomes]
rs60892581	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61279308	1.00[ASN][1000 genomes]
rs61544197	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61679093	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61685918	0.96[ASN][1000 genomes]
rs61697996	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6595747	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6860157	1.00[CEU][hapmap]
rs6860581	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6862462	0.91[ASN][1000 genomes]
rs6864607	1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6870711	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6872893	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6877692	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6882025	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6886131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6892168	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72505648	0.89[ASN][1000 genomes]
rs73335444	0.89[ASN][1000 genomes]
rs73335447	0.89[ASN][1000 genomes]
rs73335461	0.89[ASN][1000 genomes]
rs73335474	0.89[ASN][1000 genomes]
rs73335490	0.89[ASN][1000 genomes]
rs73335494	0.89[ASN][1000 genomes]
rs73335498	0.93[ASN][1000 genomes]
rs73335501	0.93[ASN][1000 genomes]
rs73337225	0.93[ASN][1000 genomes]
rs73337229	0.96[ASN][1000 genomes]
rs73337233	0.96[ASN][1000 genomes]
rs73337299	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73339248	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73339251	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73339283	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73339293	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73783476	0.89[ASN][1000 genomes]
rs73783496	0.96[ASN][1000 genomes]
rs73783501	0.96[ASN][1000 genomes]
rs73783503	1.00[ASN][1000 genomes]
rs73783504	1.00[ASN][1000 genomes]
rs73783506	1.00[ASN][1000 genomes]
rs73783507	1.00[ASN][1000 genomes]
rs73783529	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786207	0.96[ASN][1000 genomes]
rs73786209	0.96[ASN][1000 genomes]
rs73786212	0.96[ASN][1000 genomes]
rs73786239	0.96[ASN][1000 genomes]
rs73786240	0.96[ASN][1000 genomes]
rs73786241	0.96[ASN][1000 genomes]
rs73786242	0.96[ASN][1000 genomes]
rs73786244	0.96[ASN][1000 genomes]
rs73786246	0.96[ASN][1000 genomes]
rs73786247	0.96[ASN][1000 genomes]
rs73786249	0.96[ASN][1000 genomes]
rs73786250	0.96[ASN][1000 genomes]
rs73786251	0.96[ASN][1000 genomes]
rs73786252	0.96[ASN][1000 genomes]
rs73786253	0.96[ASN][1000 genomes]
rs73786255	0.96[ASN][1000 genomes]
rs73786259	0.96[ASN][1000 genomes]
rs73786260	0.96[ASN][1000 genomes]
rs73786261	0.96[ASN][1000 genomes]
rs73786262	0.96[ASN][1000 genomes]
rs73786264	0.96[ASN][1000 genomes]
rs73786265	0.96[ASN][1000 genomes]
rs73786266	0.96[ASN][1000 genomes]
rs73786267	0.96[ASN][1000 genomes]
rs73786268	0.96[ASN][1000 genomes]
rs73786269	0.96[ASN][1000 genomes]
rs73786270	0.96[ASN][1000 genomes]
rs73786271	0.96[ASN][1000 genomes]
rs73786272	0.94[ASN][1000 genomes]
rs73786276	1.00[ASN][1000 genomes]
rs73786277	1.00[ASN][1000 genomes]
rs73786278	1.00[ASN][1000 genomes]
rs73786280	1.00[ASN][1000 genomes]
rs73786281	1.00[ASN][1000 genomes]
rs73786282	1.00[ASN][1000 genomes]
rs73786283	1.00[ASN][1000 genomes]
rs73786284	1.00[ASN][1000 genomes]
rs73786285	1.00[ASN][1000 genomes]
rs73786287	1.00[ASN][1000 genomes]
rs73786288	1.00[ASN][1000 genomes]
rs73786290	1.00[ASN][1000 genomes]
rs73786294	1.00[ASN][1000 genomes]
rs73786295	1.00[ASN][1000 genomes]
rs73786298	1.00[ASN][1000 genomes]
rs73787403	1.00[ASN][1000 genomes]
rs73787404	1.00[ASN][1000 genomes]
rs73787406	1.00[ASN][1000 genomes]
rs7701976	1.00[CHB][hapmap];0.96[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7715377	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7727719	0.87[ASN][1000 genomes]
rs9918233	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[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	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126347800-126365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:126351800-126365200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:126361800-126365000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:126362000-126365000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:126362800-126365200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:126362800-126365200	Weak transcription	Pancreas	Pancrea
7	chr5:126362800-126367200	Active TSS	Right Ventricle	heart
8	chr5:126363000-126367200	Active TSS	HSMM	muscle
9	chr5:126364200-126365000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:126364200-126365200	Active TSS	Rectal Smooth Muscle	rectum
11	chr5:126364200-126365200	Flanking Active TSS	HepG2	liver
12	chr5:126364200-126365400	Flanking Active TSS	HUVEC	blood vessel
13	chr5:126364200-126366000	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr5:126364200-126366000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:126364200-126366800	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr5:126364400-126364800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:126364400-126364800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr5:126364400-126364800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:126364400-126364800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:126364400-126364800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:126364400-126364800	Flanking Active TSS	Fetal Brain Female	brain
22	chr5:126364400-126364800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr5:126364400-126364800	Flanking Active TSS	Fetal Muscle Leg	muscle
24	chr5:126364400-126364800	Flanking Active TSS	Ovary	ovary
25	chr5:126364400-126364800	Flanking Active TSS	Psoas Muscle	Psoas
26	chr5:126364400-126364800	Enhancers	NH-A	brain
27	chr5:126364400-126365000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr5:126364400-126365000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr5:126364400-126365000	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr5:126364400-126365200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:126364400-126365200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
32	chr5:126364400-126365200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr5:126364400-126365200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr5:126364400-126365200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr5:126364400-126365200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr5:126364400-126365200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr5:126364400-126365200	Enhancers	Small Intestine	intestine
38	chr5:126364400-126365200	Active TSS	Stomach Smooth Muscle	stomach
39	chr5:126364400-126365400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:126364400-126365400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
41	chr5:126364400-126365400	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr5:126364400-126365400	Flanking Active TSS	Osteobl	bone
43	chr5:126364400-126365600	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr5:126364400-126365600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr5:126364400-126365600	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr5:126364400-126365600	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr5:126364400-126365600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr5:126364400-126365600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr5:126364400-126365600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
50	chr5:126364400-126365800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links