Variant report

Variant	rs7278317
Chromosome Location	chr21:45369998-45369999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45368958..45371465-chr21:45372849..45375980,3	K562	blood:
2	chr21:45367943..45370581-chr21:45429600..45432583,3	K562	blood:

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2329629	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2838443	1.00[JPT][hapmap]
rs3737358	0.82[JPT][hapmap]
rs3788076	1.00[JPT][hapmap]
rs3788083	1.00[CHB][hapmap]
rs3788089	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
4	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv1055772	chr21:45353436-45373304	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv913889	chr21:45361044-45414119	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7278317	CSTB	cis	lymphoblastoid	seeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45343000-45372400	Weak transcription	Small Intestine	intestine
2	chr21:45343800-45379800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr21:45359000-45371400	Weak transcription	HSMMtube	muscle
4	chr21:45359200-45376000	Weak transcription	HUVEC	blood vessel
5	chr21:45359200-45378800	Weak transcription	NHEK	skin
6	chr21:45359200-45379000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr21:45359400-45370200	Weak transcription	Hela-S3	cervix
8	chr21:45359400-45371800	Weak transcription	Stomach Mucosa	stomach
9	chr21:45359400-45376000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr21:45359400-45389000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr21:45359800-45376400	Weak transcription	NHLF	lung
12	chr21:45360800-45371800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr21:45361000-45379200	Weak transcription	Ovary	ovary
14	chr21:45362000-45370400	Weak transcription	Fetal Brain Male	brain
15	chr21:45363600-45377000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr21:45364800-45378400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:45365600-45370800	Strong transcription	Liver	Liver
18	chr21:45366600-45370200	ZNF genes & repeats	GM12878-XiMat	blood
19	chr21:45366600-45370800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr21:45366600-45371000	Strong transcription	Fetal Intestine Large	intestine
21	chr21:45366800-45372200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr21:45367200-45376600	Weak transcription	Pancreas	Pancrea
23	chr21:45367200-45379200	Weak transcription	Fetal Brain Female	brain
24	chr21:45367600-45370400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr21:45368400-45370400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr21:45368400-45379400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr21:45368400-45379800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr21:45368600-45372200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr21:45368600-45374000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr21:45368600-45374600	Weak transcription	Gastric	stomach
31	chr21:45368800-45370000	Genic enhancers	Dnd41	blood
32	chr21:45369000-45370000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr21:45369000-45370000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr21:45369000-45370400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr21:45369000-45376400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr21:45369200-45370000	Enhancers	Primary B cells from cord blood	blood
37	chr21:45369200-45370000	Enhancers	Primary B cells from peripheral blood	blood
38	chr21:45369200-45370000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr21:45369200-45370000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr21:45369200-45370000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr21:45369200-45370000	ZNF genes & repeats	Brain Germinal Matrix	brain
42	chr21:45369200-45370200	Enhancers	Primary T cells fromperipheralblood	blood
43	chr21:45369200-45370600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr21:45369200-45379400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr21:45369400-45370000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr21:45369400-45370000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr21:45369400-45370000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
48	chr21:45369400-45370400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr21:45369400-45370800	Genic enhancers	Left Ventricle	heart
50	chr21:45369400-45371200	Strong transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links