Variant report

Variant	rs3730310
Chromosome Location	chr11:67047400-67047401
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67047375-67048070	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:67041841-67058702	HL-60	blood:	n/a	n/a
3	POLR2A	chr11:67047301-67048951	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:67047219-67048255	NB4	blood:	n/a	n/a
5	POLR2A	chr11:67042905-67049648	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:67047340-67047902	K562	blood:	n/a	n/a
7	POLR2A	chr11:67041711-67058704	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67046781..67048782-chr11:67395418..67397975,2	K562	blood:

Variant related genes	Relation type
ADRBK1	TF binding region
ENSG00000167799	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10128545	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227681	1.00[AMR][1000 genomes]
rs11227704	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227705	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227708	1.00[AMR][1000 genomes]
rs11227734	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227739	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227741	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227749	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227754	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11501507	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270253	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274690	1.00[AMR][1000 genomes]
rs12274763	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275826	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282634	0.83[AMR][1000 genomes]
rs12282851	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283056	1.00[AMR][1000 genomes]
rs12284445	1.00[AMR][1000 genomes]
rs12285582	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286106	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286762	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287003	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287355	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287649	0.83[AFR][1000 genomes]
rs12290300	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292708	0.89[AFR][1000 genomes]
rs12293258	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294777	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3730309	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4370946	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61758504	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7111472	1.00[AMR][1000 genomes]
rs7128315	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7478885	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7928575	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945629	1.00[AMR][1000 genomes]
rs948988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
9	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
10	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
11	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67037200-67055800	Genic enhancers	Spleen	Spleen
2	chr11:67038200-67055200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:67042400-67048000	Genic enhancers	Lung	lung
4	chr11:67043000-67048000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:67043400-67054800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:67043600-67047600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:67044200-67053400	Strong transcription	HepG2	liver
8	chr11:67045000-67047600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:67045000-67054600	Weak transcription	Fetal Brain Male	brain
10	chr11:67045000-67054800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:67045000-67055200	Weak transcription	Fetal Kidney	kidney
12	chr11:67045200-67048800	Weak transcription	A549	lung
13	chr11:67045200-67054800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:67045200-67054800	Strong transcription	Brain Germinal Matrix	brain
15	chr11:67045400-67047400	Genic enhancers	Esophagus	oesophagus
16	chr11:67045400-67048000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:67045400-67054600	Strong transcription	Fetal Brain Female	brain
18	chr11:67045400-67055800	Genic enhancers	Placenta	Placenta
19	chr11:67045600-67048000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:67045600-67048200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
21	chr11:67045600-67048600	Genic enhancers	Fetal Muscle Leg	muscle
22	chr11:67045600-67049000	Genic enhancers	Fetal Muscle Trunk	muscle
23	chr11:67045600-67049400	Genic enhancers	Primary B cells from peripheral blood	blood
24	chr11:67045600-67049600	Weak transcription	Psoas Muscle	Psoas
25	chr11:67045600-67050600	Weak transcription	NH-A	brain
26	chr11:67045600-67051600	Strong transcription	NHEK	skin
27	chr11:67045600-67052600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:67045600-67054200	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr11:67045600-67054600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:67045600-67054600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:67045600-67054600	Strong transcription	Osteobl	bone
32	chr11:67045600-67054800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:67045600-67055200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:67045800-67047600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:67045800-67047600	Genic enhancers	Stomach Smooth Muscle	stomach
36	chr11:67045800-67051000	Genic enhancers	Primary monocytes fromperipheralblood	blood
37	chr11:67045800-67054200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:67045800-67054200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:67045800-67054400	Strong transcription	Fetal Intestine Small	intestine
40	chr11:67045800-67055000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:67045800-67055000	Strong transcription	Fetal Intestine Large	intestine
42	chr11:67045800-67055000	Weak transcription	Right Atrium	heart
43	chr11:67045800-67055200	Strong transcription	NHLF	lung
44	chr11:67046000-67048200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
45	chr11:67046000-67049000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:67046000-67049800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:67046000-67051800	Genic enhancers	Primary hematopoietic stem cells	blood
48	chr11:67046000-67053600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:67046000-67054200	Genic enhancers	Primary T cells fromperipheralblood	blood
50	chr11:67046000-67054200	Strong transcription	Pancreas	Pancrea

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