Variant report

Variant	rs11773426
Chromosome Location	chr7:101505732-101505733
allele	A/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101457513..101462814-chr7:101502186..101506253,6	K562	blood:
2	chr7:101504130..101505908-chr7:101523643..101526336,2	K562	blood:
3	chr7:101505683..101508584-chr7:101516146..101519244,4	K562	blood:
4	chr7:101505683..101508254-chr7:101516347..101519089,2	K562	blood:
5	chr7:101504728..101507277-chr7:101603065..101604646,2	K562	blood:
6	chr7:101456652..101459724-chr7:101504480..101506444,3	K562	blood:
7	chr7:101504130..101506941-chr7:101522541..101527065,4	K562	blood:
8	chr7:101498548..101502350-chr7:101502411..101507839,8	MCF-7	breast:
9	chr7:101498913..101502613-chr7:101503712..101508254,12	K562	blood:
10	chr7:101504883..101507489-chr7:101509006..101510849,2	MCF-7	breast:
11	chr7:101503950..101505782-chr7:101521350..101522997,2	MCF-7	breast:
12	chr7:101499113..101502991-chr7:101502997..101507438,12	K562	blood:
13	chr7:101457958..101462183-chr7:101502330..101506202,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction
ENSG00000272219	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10257345	1.00[CHD][hapmap]
rs1636443	1.00[ASW][hapmap];1.00[CHD][hapmap]
rs1722224	1.00[ASW][hapmap]
rs73185809	1.00[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	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11773426	PTCD1	cis	parietal	SCAN
rs11773426	PVRIG	cis	cerebellum	SCAN
rs11773426	MUC17	cis	parietal	SCAN
rs11773426	FBXL13	cis	parietal	SCAN
rs11773426	ACTL6B	cis	cerebellum	SCAN

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101500200-101506600	Enhancers	Fetal Heart	heart
2	chr7:101500200-101508400	Weak transcription	NHEK	skin
3	chr7:101500400-101508400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:101500400-101513400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:101500600-101508400	Weak transcription	Ovary	ovary
6	chr7:101500600-101511800	Weak transcription	Esophagus	oesophagus
7	chr7:101500600-101513200	Weak transcription	Aorta	Aorta
8	chr7:101500800-101511400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:101501000-101506000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr7:101501000-101506000	Enhancers	Primary B cells from peripheral blood	blood
11	chr7:101501000-101508400	Weak transcription	Primary T cells from cord blood	blood
12	chr7:101501000-101508400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:101501000-101510000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:101501000-101511400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:101501000-101511400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:101501000-101511800	Weak transcription	Colonic Mucosa	Colon
17	chr7:101501000-101511800	Weak transcription	NHLF	lung
18	chr7:101501000-101513400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:101501000-101513400	Weak transcription	Osteobl	bone
20	chr7:101501000-101517600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr7:101501000-101523600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr7:101501000-101525000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:101501200-101508600	Weak transcription	Hela-S3	cervix
24	chr7:101501200-101510600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr7:101501200-101511600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:101501200-101512200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:101501200-101512600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:101501400-101506200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr7:101501600-101508400	Weak transcription	Dnd41	blood
30	chr7:101501800-101505800	Enhancers	Fetal Muscle Leg	muscle
31	chr7:101501800-101505800	Enhancers	GM12878-XiMat	blood
32	chr7:101501800-101508400	Weak transcription	Gastric	stomach
33	chr7:101501800-101510200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:101501800-101511600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:101502000-101513000	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:101502200-101506400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr7:101502400-101506600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:101502400-101508200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:101502600-101508600	Weak transcription	Pancreas	Pancrea
40	chr7:101502600-101510600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:101502800-101512000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr7:101503000-101511400	Weak transcription	Fetal Intestine Large	intestine
43	chr7:101503000-101513000	Weak transcription	Brain Angular Gyrus	brain
44	chr7:101503000-101513200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:101503200-101506000	Enhancers	Right Atrium	heart
46	chr7:101503200-101508400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:101503200-101513200	Weak transcription	Brain Substantia Nigra	brain
48	chr7:101503400-101506000	Enhancers	Left Ventricle	heart
49	chr7:101503400-101506200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr7:101503400-101517400	Weak transcription	Primary B cells from cord blood	blood

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