Variant report

Variant	rs7513065
Chromosome Location	chr1:211870825-211870826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211867435..211872084-chr1:212001341..212005541,5	K562	blood:

Variant related genes	Relation type
ENSG00000123684	Chromatin interaction
ENSG00000229258	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11576314	0.82[EUR][1000 genomes]
rs11590937	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12729804	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12742934	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12747691	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35768943	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6659130	0.87[CEU][hapmap]
rs6668541	0.87[CEU][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap]
rs6669055	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7540628	0.81[EUR][1000 genomes]
rs894857	1.00[ASW][hapmap]

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	esv2754845	chr1:211846605-211878605	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7513065	TMEM206	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211859600-211872000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:211866600-211871800	Weak transcription	Right Atrium	heart
3	chr1:211867600-211871800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:211867800-211872000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr1:211867800-211873000	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:211868000-211872800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr1:211868200-211871600	Enhancers	Primary B cells from cord blood	blood
8	chr1:211868400-211872800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:211868800-211871600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:211868800-211871800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr1:211868800-211871800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:211869000-211871600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:211869000-211871800	Weak transcription	Primary T cells from cord blood	blood
14	chr1:211869200-211871000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:211869200-211871000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:211869200-211871600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:211869200-211871600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:211869200-211871600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:211869200-211871800	Weak transcription	Fetal Heart	heart
20	chr1:211869200-211871800	Weak transcription	Thymus	Thymus
21	chr1:211869200-211871800	Enhancers	GM12878-XiMat	blood
22	chr1:211869200-211872000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:211869200-211872000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:211869200-211872000	Weak transcription	K562	blood
25	chr1:211869800-211872000	Enhancers	Fetal Thymus	thymus
26	chr1:211870000-211871600	Weak transcription	Spleen	Spleen
27	chr1:211870000-211872000	Weak transcription	Colonic Mucosa	Colon
28	chr1:211870200-211871000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:211870200-211871200	Enhancers	Dnd41	blood
30	chr1:211870200-211872000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:211870200-211872000	Weak transcription	Pancreas	Pancrea
32	chr1:211870200-211872000	Weak transcription	HMEC	breast
33	chr1:211870200-211872000	Weak transcription	NHEK	skin
34	chr1:211870400-211872200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:211870600-211871000	Enhancers	HSMMtube	muscle
36	chr1:211870600-211871800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:211870600-211871800	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr1:211870600-211872000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr1:211870600-211872200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr1:211870800-211871000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:211870800-211871600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr1:211870800-211871800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:211870800-211872400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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