Variant report

Variant	rs419261
Chromosome Location	chr6:33554147-33554148
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33553164..33555974-chr6:33639876..33642136,2	MCF-7	breast:
2	chr6:33551460..33554975-chr6:33588078..33592105,4	K562	blood:
3	chr6:33553081..33555328-chr6:33667772..33669168,10	K562	blood:
4	chr6:33550022..33555745-chr6:33586647..33590467,5	MCF-7	breast:
5	chr6:33551901..33555908-chr6:33676752..33679381,5	K562	blood:
6	chr6:33240007..33241601-chr6:33553728..33555294,2	K562	blood:
7	chr6:33553176..33554214-chr6:33667921..33668866,4	MCF-7	breast:
8	chr6:33552057..33555351-chr6:33600748..33604007,3	MCF-7	breast:
9	chr6:33384196..33386645-chr6:33552574..33554724,2	MCF-7	breast:
10	chr6:33553773..33556336-chr6:33668184..33671160,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAK1-1	chr6:33553883-33555647	ENSG00000197251.3

No data

Variant related genes	Relation type
ENSG00000096433	Chromatin interaction
ENSG00000112514	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs210202	0.86[JPT][hapmap]
rs210203	0.86[JPT][hapmap]
rs210207	0.86[JPT][hapmap]
rs210209	0.89[JPT][hapmap]
rs396746	1.00[YRI][hapmap]
rs420361	0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs420628	0.80[ASN][1000 genomes]
rs422907	0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs430655	0.93[JPT][hapmap];0.80[ASN][1000 genomes]

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	nsv462896	chr6:33534880-33588147	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv602833	chr6:33534880-33588147	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs419261	ITPR3	cis	multi-tissue	Pritchard
rs419261	FKBP5	cis	cerebellum	SCAN

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33548400-33557000	Weak transcription	HSMM	muscle
2	chr6:33548400-33557200	Weak transcription	NHDF-Ad	bronchial
3	chr6:33548400-33557600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:33548400-33557800	Weak transcription	Right Atrium	heart
5	chr6:33548600-33560600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:33548800-33557800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:33551800-33557200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:33552000-33557000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:33552400-33554200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr6:33552400-33554200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr6:33552600-33554600	Enhancers	Primary B cells from peripheral blood	blood
12	chr6:33552800-33554200	Enhancers	Primary hematopoietic stem cells	blood
13	chr6:33552800-33554200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:33553000-33554200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:33553000-33554200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:33553000-33554200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:33553000-33554200	Enhancers	Fetal Muscle Trunk	muscle
18	chr6:33553000-33554400	Enhancers	Primary B cells from cord blood	blood
19	chr6:33553000-33554800	Enhancers	Spleen	Spleen
20	chr6:33553400-33554200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:33553400-33554200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr6:33553400-33554200	Enhancers	K562	blood
23	chr6:33553600-33554400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:33553600-33557000	Weak transcription	Ovary	ovary
25	chr6:33553600-33558000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:33553800-33554200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:33553800-33554200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr6:33553800-33554200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:33553800-33554200	Enhancers	Fetal Thymus	thymus
30	chr6:33553800-33554800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:33553800-33556400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:33553800-33556400	Weak transcription	Fetal Intestine Small	intestine
33	chr6:33553800-33556600	Weak transcription	Fetal Intestine Large	intestine
34	chr6:33553800-33556600	Weak transcription	Lung	lung
35	chr6:33553800-33556600	Weak transcription	Pancreas	Pancrea
36	chr6:33553800-33556800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr6:33553800-33556800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr6:33553800-33556800	Weak transcription	Stomach Mucosa	stomach
39	chr6:33553800-33557000	Weak transcription	Fetal Stomach	stomach
40	chr6:33553800-33557000	Weak transcription	HMEC	breast
41	chr6:33553800-33557000	Weak transcription	HSMMtube	muscle
42	chr6:33553800-33557200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:33553800-33557200	Weak transcription	Fetal Heart	heart
44	chr6:33553800-33557400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:33553800-33557400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr6:33553800-33557600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:33553800-33557600	Weak transcription	Left Ventricle	heart
48	chr6:33553800-33557600	Weak transcription	NH-A	brain
49	chr6:33553800-33557600	Weak transcription	Osteobl	bone
50	chr6:33553800-33557800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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