Variant report

Variant	rs974758
Chromosome Location	chr8:103837491-103837492
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103835276..103837676-chr8:103841213..103843239,2	MCF-7	breast:
2	chr8:103835780..103838077-chr8:103842797..103845135,3	MCF-7	breast:
3	chr8:103836905..103839866-chr8:103851404..103853961,3	MCF-7	breast:
4	chr8:103835913..103837601-chr8:103875219..103876798,2	K562	blood:

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1019976	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1062048	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17776569	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs17776600	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1802539	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1806300	0.83[ASN][1000 genomes]
rs1897787	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982111	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1991928	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2247355	0.91[ASN][1000 genomes]
rs2436849	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2436850	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2436851	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2436854	0.96[EUR][1000 genomes]
rs2436856	0.89[ASN][1000 genomes]
rs2436861	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2513876	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2513911	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2513912	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2513915	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2513917	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2513920	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2513923	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2513936	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2570941	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2570945	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2570951	0.89[ASN][1000 genomes]
rs2570952	0.87[ASN][1000 genomes]
rs2679736	0.89[ASN][1000 genomes]
rs2679737	0.89[ASN][1000 genomes]
rs2679740	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2679745	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2679747	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2679750	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2679753	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2916559	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3018943	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3018954	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34157576	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs34352733	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35656046	0.83[ASN][1000 genomes]
rs601088	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103823000-103839600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:103823000-103841400	Weak transcription	Pancreas	Pancrea
3	chr8:103823000-103855000	Weak transcription	Esophagus	oesophagus
4	chr8:103823200-103841800	Weak transcription	Aorta	Aorta
5	chr8:103823200-103844000	Weak transcription	Right Ventricle	heart
6	chr8:103823200-103853400	Weak transcription	Right Atrium	heart
7	chr8:103823400-103870600	Weak transcription	Stomach Mucosa	stomach
8	chr8:103823600-103838800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:103823600-103839800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:103823600-103840000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:103823800-103837600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:103823800-103837800	Weak transcription	NHDF-Ad	bronchial
13	chr8:103825600-103837600	Weak transcription	Dnd41	blood
14	chr8:103825600-103841600	Weak transcription	Lung	lung
15	chr8:103825800-103840200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:103826200-103839200	Weak transcription	HUVEC	blood vessel
17	chr8:103826800-103837600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:103826800-103841400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:103826800-103871200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:103827000-103838000	Weak transcription	Hela-S3	cervix
21	chr8:103827000-103838800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:103827000-103839200	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:103827000-103840000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr8:103827200-103837600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:103827200-103837600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:103827200-103837600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:103827200-103837800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr8:103827200-103837800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr8:103827200-103839000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:103827200-103839200	Weak transcription	Fetal Lung	lung
31	chr8:103827200-103839400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:103827200-103839800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:103827200-103840000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:103827200-103840000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:103827200-103840200	Weak transcription	Fetal Kidney	kidney
36	chr8:103827200-103840400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr8:103827200-103840400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr8:103827200-103840400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr8:103827200-103840800	Weak transcription	Fetal Brain Male	brain
40	chr8:103827800-103844800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:103830600-103840000	Weak transcription	HepG2	liver
42	chr8:103830800-103840600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr8:103831600-103840800	Weak transcription	Ovary	ovary
44	chr8:103832000-103840800	Weak transcription	Fetal Heart	heart
45	chr8:103833000-103839800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr8:103833000-103840800	Weak transcription	Brain Substantia Nigra	brain
47	chr8:103833000-103858600	Strong transcription	A549	lung
48	chr8:103833400-103870800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:103833600-103848200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:103833800-103855200	Weak transcription	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links