Variant report

Variant	rs2380756
Chromosome Location	chr11:66640184-66640185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66639577..66641778-chr11:66647865..66649467,2	K562	blood:
2	chr11:66632881..66640228-chr11:66642679..66650860,16	MCF-7	breast:
3	chr11:66639545..66642347-chr11:66725160..66728073,2	K562	blood:
4	chr11:66639054..66642378-chr11:66723949..66728673,4	K562	blood:
5	chr11:66459650..66462162-chr11:66637854..66640560,2	K562	blood:

Variant related genes	Relation type
ENSG00000173599	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2380757	0.89[AMR][1000 genomes]
rs57240313	0.89[AMR][1000 genomes]
rs57466874	0.89[AMR][1000 genomes]
rs59550560	0.89[AMR][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	nsv508638	chr11:66541653-66643634	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
6	esv3422097	chr11:66639801-66642349	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3329199	chr11:66640076-66642074	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66624200-66645000	Weak transcription	Fetal Kidney	kidney
2	chr11:66624400-66640200	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:66625000-66648800	Weak transcription	Right Atrium	heart
4	chr11:66625400-66642200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:66625400-66642200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:66625400-66645400	Weak transcription	Fetal Lung	lung
7	chr11:66625400-66645800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:66625400-66648000	Weak transcription	Left Ventricle	heart
9	chr11:66625400-66650600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:66625800-66650800	Weak transcription	Osteobl	bone
11	chr11:66627000-66643000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:66627400-66642400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:66627800-66650000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:66629800-66645600	Weak transcription	Pancreas	Pancrea
15	chr11:66630200-66645600	Weak transcription	NHLF	lung
16	chr11:66633600-66648000	Weak transcription	Psoas Muscle	Psoas
17	chr11:66636400-66641800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr11:66636600-66648000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:66636800-66642400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:66636800-66642400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr11:66636800-66644200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:66636800-66645600	Weak transcription	Fetal Thymus	thymus
23	chr11:66636800-66646400	Weak transcription	Stomach Mucosa	stomach
24	chr11:66636800-66647800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:66636800-66647800	Weak transcription	Thymus	Thymus
26	chr11:66636800-66648000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:66636800-66650800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:66637000-66643600	Weak transcription	K562	blood
29	chr11:66637200-66642400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:66637200-66644000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr11:66638000-66650000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:66638600-66650200	Weak transcription	Fetal Intestine Large	intestine
33	chr11:66639000-66646600	Weak transcription	Brain Germinal Matrix	brain
34	chr11:66639000-66648000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:66639000-66657200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:66639200-66645200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:66639200-66646000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:66639200-66646200	Weak transcription	Brain Substantia Nigra	brain
39	chr11:66639200-66646400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:66639200-66646600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:66639200-66647800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr11:66639200-66649600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:66639200-66649800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr11:66639200-66657400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr11:66639400-66641800	Weak transcription	A549	lung
46	chr11:66639400-66642000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:66639400-66642000	Weak transcription	Adipose Nuclei	Adipose
48	chr11:66639400-66642000	Weak transcription	Hela-S3	cervix
49	chr11:66639400-66642400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:66639400-66642400	Weak transcription	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links