Variant report

Variant	rs1206036
Chromosome Location	chr19:42840886-42840887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42839160..42841948-chr19:42864611..42866413,2	K562	blood:
2	chr19:42840802..42843796-chr19:42844325..42846869,2	K562	blood:
3	chr19:42829333..42831314-chr19:42839083..42841582,2	K562	blood:
4	chr19:42838444..42841386-chr19:42911840..42914097,2	K562	blood:
5	chr19:42833228..42835569-chr19:42840007..42841585,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105429	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1206029	0.82[ASW][hapmap];0.87[YRI][hapmap]
rs1206030	1.00[AMR][1000 genomes]
rs1206033	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs1206037	1.00[AMR][1000 genomes]
rs1206039	1.00[AMR][1000 genomes]
rs1654624	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1685564	0.82[ASW][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1685565	1.00[YRI][hapmap]
rs1685566	0.87[AFR][1000 genomes]
rs2615615	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs851291	1.00[MKK][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs851295	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs851299	1.00[AMR][1000 genomes]
rs851300	1.00[AMR][1000 genomes]
rs851608	1.00[AMR][1000 genomes]
rs851611	0.82[AFR][1000 genomes]
rs851614	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
6	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1206036	TMEM145	cis	lymphoblastoid	seeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42830800-42841000	Weak transcription	HSMMtube	muscle
2	chr19:42830800-42851200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr19:42830800-42856400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:42830800-42867200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:42830800-42867600	Weak transcription	Fetal Kidney	kidney
6	chr19:42830800-42879200	Weak transcription	Small Intestine	intestine
7	chr19:42830800-42884200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr19:42831000-42843600	Weak transcription	Right Atrium	heart
9	chr19:42831000-42856200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:42831000-42860600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr19:42831000-42874400	Weak transcription	HSMM	muscle
12	chr19:42831200-42847800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr19:42831200-42856600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:42831200-42856800	Weak transcription	Fetal Thymus	thymus
15	chr19:42831400-42867400	Weak transcription	Fetal Heart	heart
16	chr19:42831400-42867400	Weak transcription	NHEK	skin
17	chr19:42831600-42846200	Weak transcription	Primary T cells from cord blood	blood
18	chr19:42831600-42856400	Weak transcription	HMEC	breast
19	chr19:42831600-42856600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr19:42831600-42861800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:42831600-42882600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr19:42831800-42852200	Weak transcription	Colon Smooth Muscle	Colon
23	chr19:42831800-42873800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr19:42831800-42874800	Weak transcription	K562	blood
25	chr19:42833400-42867400	Weak transcription	GM12878-XiMat	blood
26	chr19:42835200-42849400	Weak transcription	Fetal Brain Male	brain
27	chr19:42835400-42867400	Strong transcription	Fetal Stomach	stomach
28	chr19:42836400-42841600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr19:42836600-42861000	Weak transcription	Psoas Muscle	Psoas
30	chr19:42836800-42842600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:42837000-42842200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr19:42837000-42842400	Strong transcription	Brain Germinal Matrix	brain
33	chr19:42837200-42841800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:42837200-42841800	Strong transcription	Fetal Intestine Large	intestine
35	chr19:42837200-42842800	Strong transcription	Fetal Intestine Small	intestine
36	chr19:42837200-42843000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:42837400-42841600	Strong transcription	Lung	lung
38	chr19:42837400-42843200	Strong transcription	Fetal Muscle Trunk	muscle
39	chr19:42837400-42851600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr19:42837600-42841000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr19:42837600-42850000	Strong transcription	Fetal Muscle Leg	muscle
42	chr19:42837800-42841600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr19:42837800-42841600	Strong transcription	Adipose Nuclei	Adipose
44	chr19:42837800-42841600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:42837800-42841600	Strong transcription	Fetal Brain Female	brain
46	chr19:42837800-42842400	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr19:42837800-42849200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:42838000-42841200	Strong transcription	Rectal Smooth Muscle	rectum
49	chr19:42838000-42841600	Strong transcription	Pancreas	Pancrea
50	chr19:42838000-42841600	Strong transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links