Variant report

Variant	rs17718949
Chromosome Location	chr18:29613235-29613236
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29599759..29602632-chr18:29612702..29615585,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2006768	0.96[CEU][hapmap];0.90[CHB][hapmap]
rs2433379	0.96[CEU][hapmap];0.90[CHB][hapmap]
rs336279	0.96[CEU][hapmap]
rs336281	0.85[CEU][hapmap]
rs454768	0.96[CEU][hapmap];0.90[CHB][hapmap]
rs606590	0.96[CEU][hapmap];0.90[CHB][hapmap]
rs7226543	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs8086733	0.96[CEU][hapmap]

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	nsv1065285	chr18:29527884-29614986	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1803283	chr18:29591102-29640430	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
3	nsv1061305	chr18:29609935-29664528	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv962873	chr18:29611573-29616326	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17718949	DSC3	cis	thalamus	BrainEAC

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29599600-29629600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:29600200-29617200	Weak transcription	Lung	lung
3	chr18:29600400-29616800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr18:29600400-29617000	Weak transcription	Fetal Muscle Leg	muscle
5	chr18:29600600-29616800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr18:29600600-29617000	Weak transcription	Left Ventricle	heart
7	chr18:29600600-29620400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr18:29600600-29628400	Weak transcription	Hela-S3	cervix
9	chr18:29600800-29632400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:29602000-29617200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr18:29602600-29617000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr18:29602600-29628600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr18:29602600-29664200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr18:29602800-29616600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr18:29602800-29617000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:29602800-29617200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr18:29602800-29617200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr18:29602800-29617400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr18:29602800-29620600	Weak transcription	Brain Angular Gyrus	brain
20	chr18:29603600-29617200	Weak transcription	Fetal Intestine Large	intestine
21	chr18:29604600-29656000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr18:29606600-29617000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr18:29606600-29617800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr18:29606800-29637000	Weak transcription	Brain Anterior Caudate	brain
25	chr18:29607000-29616800	Weak transcription	Adipose Nuclei	Adipose
26	chr18:29607200-29617000	Weak transcription	Fetal Thymus	thymus
27	chr18:29607600-29615200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr18:29607800-29617200	Weak transcription	Brain Substantia Nigra	brain
29	chr18:29609800-29618400	Weak transcription	Brain Hippocampus Middle	brain
30	chr18:29609800-29628600	Weak transcription	Small Intestine	intestine
31	chr18:29610000-29617200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr18:29610400-29619600	Weak transcription	Ovary	ovary
33	chr18:29610800-29614400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr18:29610800-29614600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr18:29611000-29616800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr18:29611200-29613600	Strong transcription	Primary T cells from cord blood	blood
37	chr18:29611200-29616800	Weak transcription	Primary B cells from cord blood	blood
38	chr18:29611200-29617000	Weak transcription	Thymus	Thymus
39	chr18:29611400-29613800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr18:29611400-29614200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr18:29611400-29615600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr18:29611400-29616800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr18:29611400-29616800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr18:29611400-29617000	Weak transcription	Liver	Liver
45	chr18:29611600-29628800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr18:29611800-29629000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr18:29612200-29614400	Strong transcription	Fetal Intestine Small	intestine
48	chr18:29612200-29615200	Genic enhancers	Primary T cells fromperipheralblood	blood
49	chr18:29612200-29615200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr18:29612200-29617600	Weak transcription	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links