Variant report

Variant	rs853873
Chromosome Location	chr6:36505872-36505873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36503365..36507767-chr6:36512394..36516157,5	MCF-7	breast:
2	chr6:36504045..36506304-chr6:36566713..36568653,2	K562	blood:
3	chr6:36504738..36508303-chr6:36559750..36564175,7	MCF-7	breast:
4	chr6:36499811..36502990-chr6:36505261..36508061,3	MCF-7	breast:
5	chr6:36504840..36506364-chr6:36561503..36563499,2	K562	blood:
6	chr6:36499219..36502252-chr6:36503791..36506316,3	K562	blood:
7	chr6:36503692..36506297-chr6:36561368..36564408,4	K562	blood:

Variant related genes	Relation type
ENSG00000112079	Chromatin interaction
ENSG00000112081	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1003250	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10440841	0.81[AMR][1000 genomes]
rs10947609	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12209346	0.82[ASN][1000 genomes]
rs12214285	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12215889	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1570368	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3752478	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3798471	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4140593	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4711450	0.81[ASN][1000 genomes]
rs4711452	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4711453	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs544267	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs546272	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs546353	0.80[ASN][1000 genomes]
rs547026	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs547966	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs566742	0.80[ASN][1000 genomes]
rs57389119	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs584196	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs595954	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs597153	0.80[ASN][1000 genomes]
rs605684	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs609067	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs614028	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs619011	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs621796	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs628213	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs628314	0.80[ASN][1000 genomes]
rs629297	0.80[ASN][1000 genomes]
rs629560	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs632943	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6457918	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs648125	0.83[AMR][1000 genomes]
rs659726	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6923993	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6941918	0.84[ASN][1000 genomes]
rs73411054	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7744363	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs853881	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs853882	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs860513	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9357214	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9470274	0.80[ASN][1000 genomes]
rs9470278	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9470285	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9470309	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[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	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
2	nsv5260	chr6:36471464-36516119	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs853873	ETV7	cis	Whole Blood	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36456400-36512600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:36463000-36507200	Weak transcription	Fetal Brain Male	brain
3	chr6:36463800-36513600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:36476800-36512200	Weak transcription	Brain Angular Gyrus	brain
5	chr6:36477400-36507400	Strong transcription	Primary B cells from peripheral blood	blood
6	chr6:36478400-36507400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:36478400-36507800	Strong transcription	Fetal Thymus	thymus
8	chr6:36478400-36513600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:36478400-36514000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:36478800-36512400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:36479600-36514400	Weak transcription	Spleen	Spleen
12	chr6:36481400-36512000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:36484200-36506200	Weak transcription	Brain Substantia Nigra	brain
14	chr6:36484600-36507600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:36484600-36514000	Weak transcription	Pancreas	Pancrea
16	chr6:36484800-36512400	Weak transcription	Right Atrium	heart
17	chr6:36488800-36513800	Weak transcription	Aorta	Aorta
18	chr6:36490200-36507000	Weak transcription	Brain Hippocampus Middle	brain
19	chr6:36491800-36512400	Weak transcription	Small Intestine	intestine
20	chr6:36492000-36507600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr6:36492400-36507200	Weak transcription	Fetal Kidney	kidney
22	chr6:36492400-36514000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr6:36492800-36507200	Weak transcription	Brain Anterior Caudate	brain
24	chr6:36492800-36511200	Weak transcription	Colonic Mucosa	Colon
25	chr6:36493000-36509800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
26	chr6:36493400-36506000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:36493600-36509200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
28	chr6:36494000-36512000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:36494200-36507600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr6:36494200-36507800	Weak transcription	HMEC	breast
31	chr6:36494400-36512000	Weak transcription	NHEK	skin
32	chr6:36494400-36512400	Weak transcription	Esophagus	oesophagus
33	chr6:36495200-36507600	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr6:36495200-36509400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr6:36495400-36509200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:36495400-36509600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr6:36496000-36513400	Weak transcription	Psoas Muscle	Psoas
38	chr6:36496200-36514200	Weak transcription	Gastric	stomach
39	chr6:36496400-36507200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr6:36496600-36507000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:36496600-36507200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr6:36496600-36507200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:36496600-36507600	Weak transcription	Fetal Lung	lung
44	chr6:36496600-36509000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:36496600-36511400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr6:36497000-36507200	Weak transcription	HUVEC	blood vessel
47	chr6:36497000-36508200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:36497600-36512400	Weak transcription	Right Ventricle	heart
49	chr6:36497800-36511200	Strong transcription	Fetal Intestine Small	intestine
50	chr6:36498400-36508000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood

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