Variant report

Variant	rs12941675
Chromosome Location	chr17:38179062-38179063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:38178756-38179238	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:38178740..38181888-chr17:38181920..38184770,3	K562	blood:
2	chr17:38177803..38180808-chr17:38181920..38184987,3	K562	blood:
3	chr17:38175295..38180645-chr17:38181007..38185256,8	MCF-7	breast:
4	chr17:38178218..38182497-chr17:38276428..38279757,5	MCF-7	breast:
5	chr17:38178625..38181576-chr17:38444051..38445917,2	K562	blood:
6	chr17:38177907..38180041-chr17:38332919..38334626,2	MCF-7	breast:
7	chr17:38175071..38177613-chr17:38178105..38180812,3	MCF-7	breast:

No data

Variant related genes	Relation type
MED24	TF binding region
ENSG00000008838	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000094804	Chromatin interaction
ENSG00000188895	Chromatin interaction
ENSG00000238793	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11652972	0.82[AFR][1000 genomes]
rs11655821	0.92[AFR][1000 genomes]
rs2227318	0.96[AFR][1000 genomes]
rs34029479	1.00[AFR][1000 genomes]
rs34556339	0.82[AFR][1000 genomes]
rs34616965	0.96[AFR][1000 genomes]
rs34622957	0.92[AFR][1000 genomes]
rs36026011	0.92[AFR][1000 genomes]
rs71371403	0.96[AFR][1000 genomes]
rs71371404	0.82[AFR][1000 genomes]
rs71371407	0.90[AFR][1000 genomes]
rs7211771	0.96[AFR][1000 genomes]
rs8068498	0.90[AFR][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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38166800-38181600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr17:38170400-38181600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr17:38171400-38186000	Weak transcription	Small Intestine	intestine
4	chr17:38173000-38179600	Strong transcription	Fetal Intestine Small	intestine
5	chr17:38173000-38181400	Weak transcription	Fetal Kidney	kidney
6	chr17:38173400-38183800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr17:38173400-38192800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr17:38173600-38180200	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr17:38173600-38180400	Genic enhancers	NHLF	lung
10	chr17:38173600-38182000	Strong transcription	Thymus	Thymus
11	chr17:38173800-38179400	Strong transcription	Fetal Intestine Large	intestine
12	chr17:38173800-38179800	Genic enhancers	Spleen	Spleen
13	chr17:38173800-38180600	Strong transcription	Brain Anterior Caudate	brain
14	chr17:38173800-38181400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr17:38173800-38181800	Strong transcription	Primary T cells from cord blood	blood
16	chr17:38173800-38182400	Strong transcription	Duodenum Mucosa	Duodenum
17	chr17:38174000-38192600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr17:38174000-38193800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr17:38174200-38179600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr17:38174200-38180400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:38174200-38180800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr17:38174200-38183200	Strong transcription	Placenta	Placenta
23	chr17:38174200-38183400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:38174200-38183400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr17:38174200-38187400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr17:38174400-38179200	Strong transcription	Pancreas	Pancrea
27	chr17:38174400-38179800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr17:38174400-38183200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr17:38174400-38193200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr17:38174600-38180400	Genic enhancers	Fetal Muscle Leg	muscle
31	chr17:38174600-38181400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr17:38174600-38181800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr17:38174600-38182000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr17:38174800-38181400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr17:38174800-38192600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr17:38175000-38180600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr17:38175000-38193800	Strong transcription	HepG2	liver
38	chr17:38175200-38181600	Strong transcription	Fetal Thymus	thymus
39	chr17:38175200-38182800	Strong transcription	Brain Angular Gyrus	brain
40	chr17:38175200-38192600	Strong transcription	Fetal Brain Female	brain
41	chr17:38175200-38193200	Strong transcription	Dnd41	blood
42	chr17:38175400-38179800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr17:38175400-38180200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
44	chr17:38175400-38182200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr17:38175400-38188200	Weak transcription	Fetal Heart	heart
46	chr17:38175600-38181800	Weak transcription	Fetal Brain Male	brain
47	chr17:38175600-38191400	Strong transcription	Brain Hippocampus Middle	brain
48	chr17:38175600-38193200	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr17:38175600-38193200	Strong transcription	Brain Cingulate Gyrus	brain
50	chr17:38175600-38193800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links