Variant report

Variant	rs11078935
Chromosome Location	chr17:38192137-38192138
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:38191110-38192531	A549	lung:	n/a	n/a
2	SMC3	chr17:38191323-38192365	SK-N-SH	brain:	n/a	chr17:38191337-38191347
3	POLR2A	chr17:38191918-38192146	HepG2	liver:	n/a	n/a
4	CTCF	chr17:38192040-38192190	WERI-Rb-1	eye:	n/a	n/a
5	POLR2A	chr17:38191826-38192516	SK-N-MC	brain:	n/a	n/a
6	MAZ	chr17:38191314-38192188	IMR90	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38191841..38193533-chr17:38193734..38195685,2	K562	blood:
2	chr17:38183240..38186698-chr17:38191393..38193112,3	MCF-7	breast:
3	chr17:38188226..38189880-chr17:38190553..38192589,2	K562	blood:
4	chr17:38191456..38193795-chr17:38198203..38200454,3	K562	blood:
5	chr17:38191625..38193945-chr17:38255640..38257411,2	MCF-7	breast:
6	chr17:38189937..38192774-chr17:38333499..38335289,2	MCF-7	breast:
7	chr17:38191590..38193239-chr17:38198597..38200448,2	K562	blood:

No data

Variant related genes	Relation type
MED24	TF binding region
ENSG00000126368	Chromatin interaction
ENSG00000008838	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000238793	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10445310	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11078930	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11078931	0.84[ASN][1000 genomes]
rs11078936	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11654208	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11655264	0.81[ASN][1000 genomes]
rs11655655	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11658328	0.83[ASN][1000 genomes]
rs11867302	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12309	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12451547	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12451897	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12453334	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12453341	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12453343	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12453764	0.81[ASN][1000 genomes]
rs12601929	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12602514	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12602854	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12939682	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12940405	0.81[ASN][1000 genomes]
rs2227319	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2227321	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2227333	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2241244	0.83[ASN][1000 genomes]
rs2241245	0.83[ASN][1000 genomes]
rs2270401	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2302774	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2302777	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2305481	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2305482	0.80[ASN][1000 genomes]
rs25645	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3087852	0.81[ASN][1000 genomes]
rs34003767	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34342173	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34453912	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34540281	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34648856	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34933056	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35272691	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35982947	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36071767	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3744245	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3785550	0.80[ASN][1000 genomes]
rs3816472	0.83[ASN][1000 genomes]
rs3859187	0.83[ASN][1000 genomes]
rs3859189	0.81[ASN][1000 genomes]
rs3935281	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4065321	0.83[ASN][1000 genomes]
rs4072639	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4433838	0.83[ASN][1000 genomes]
rs66826786	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7502971	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8066582	0.83[ASN][1000 genomes]
rs8070444	0.83[ASN][1000 genomes]
rs8071037	0.83[ASN][1000 genomes]
rs8073254	0.83[ASN][1000 genomes]
rs8075668	0.81[ASN][1000 genomes]
rs9898547	0.80[ASN][1000 genomes]
rs9915252	0.83[ASN][1000 genomes]
rs9916158	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11078935	MED24	cis	Muscle Skeletal	GTEx
rs11078935	MED24	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38173400-38192800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:38174000-38192600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr17:38174000-38193800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:38174400-38193200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr17:38174800-38192600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr17:38175000-38193800	Strong transcription	HepG2	liver
7	chr17:38175200-38192600	Strong transcription	Fetal Brain Female	brain
8	chr17:38175200-38193200	Strong transcription	Dnd41	blood
9	chr17:38175600-38193200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr17:38175600-38193200	Strong transcription	Brain Cingulate Gyrus	brain
11	chr17:38175600-38193800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:38175800-38192600	Strong transcription	Brain Germinal Matrix	brain
13	chr17:38176000-38192600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr17:38176000-38195400	Weak transcription	Right Atrium	heart
15	chr17:38176200-38193800	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr17:38176400-38192400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr17:38178200-38192600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr17:38179000-38192600	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr17:38180400-38192600	Strong transcription	Fetal Intestine Large	intestine
20	chr17:38180400-38193800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr17:38181000-38192600	Strong transcription	Primary hematopoietic stem cells	blood
22	chr17:38181400-38192600	Strong transcription	Fetal Lung	lung
23	chr17:38181400-38193200	Strong transcription	Brain Substantia Nigra	brain
24	chr17:38181400-38193400	Strong transcription	Brain Anterior Caudate	brain
25	chr17:38181800-38192600	Strong transcription	Osteobl	bone
26	chr17:38182800-38193800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr17:38183000-38195600	Strong transcription	Primary T cells from cord blood	blood
28	chr17:38183200-38193800	Strong transcription	Thymus	Thymus
29	chr17:38183400-38192400	Strong transcription	Adipose Nuclei	Adipose
30	chr17:38183400-38192600	Strong transcription	NHLF	lung
31	chr17:38183400-38193200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr17:38183600-38192200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr17:38183600-38192200	Strong transcription	Esophagus	oesophagus
34	chr17:38183600-38192600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr17:38183600-38192800	Strong transcription	Fetal Intestine Small	intestine
36	chr17:38183600-38193200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr17:38183600-38193400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr17:38183600-38193800	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr17:38183800-38192600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr17:38183800-38192600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr17:38183800-38192600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr17:38183800-38192600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr17:38183800-38192600	Strong transcription	Lung	lung
44	chr17:38183800-38192600	Strong transcription	Spleen	Spleen
45	chr17:38183800-38193200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr17:38183800-38193200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr17:38183800-38193600	Strong transcription	K562	blood
48	chr17:38183800-38194400	Strong transcription	Placenta	Placenta
49	chr17:38183800-38195000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr17:38183800-38195600	Strong transcription	Fetal Thymus	thymus

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