Variant report

Variant	rs3843676
Chromosome Location	chr12:46655332-46655333
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:0)
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	chr12:46626313..46627826-chr12:46653981..46656293,2	K562	blood:
2	chr12:46628368..46630822-chr12:46653523..46656225,2	K562	blood:
3	chr12:46595186..46598496-chr12:46654294..46656727,3	MCF-7	breast:
4	chr12:46650879..46653874-chr12:46653922..46655897,3	K562	blood:
5	chr12:46636917..46639849-chr12:46653348..46655689,2	MCF-7	breast:
6	chr12:46652597..46666608-chr12:46757245..46767985,36	MCF-7	breast:
7	chr12:46546524..46549000-chr12:46654223..46655752,2	MCF-7	breast:
8	chr12:46653089..46656059-chr12:46763885..46767167,3	MCF-7	breast:
9	chr12:46652755..46656114-chr12:46776045..46779812,3	MCF-7	breast:
10	chr12:46593182..46595515-chr12:46654279..46656070,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257261	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10506267	0.91[AMR][1000 genomes]
rs10506268	0.91[AMR][1000 genomes]
rs11830769	0.82[AMR][1000 genomes]
rs11831535	1.00[AMR][1000 genomes]
rs2125646	0.87[YRI][hapmap];0.82[AMR][1000 genomes]
rs58470507	0.91[AMR][1000 genomes]
rs59702903	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60628240	0.81[AMR][1000 genomes]
rs61517444	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74082085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74084031	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46597600-46659600	Weak transcription	Colonic Mucosa	Colon
2	chr12:46635600-46660000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:46640400-46660600	Weak transcription	Aorta	Aorta
4	chr12:46645200-46659600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:46648400-46658400	Weak transcription	HUVEC	blood vessel
6	chr12:46648600-46657400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:46648800-46656600	Weak transcription	Fetal Brain Female	brain
8	chr12:46649200-46657800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr12:46649400-46659600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:46649800-46655600	Weak transcription	Pancreas	Pancrea
11	chr12:46650200-46655800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:46650400-46659400	Genic enhancers	Primary B cells from peripheral blood	blood
13	chr12:46650800-46657800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr12:46651600-46655400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:46651600-46659600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:46651800-46655600	Enhancers	Primary T cells from cord blood	blood
17	chr12:46651800-46656800	Weak transcription	Thymus	Thymus
18	chr12:46652000-46656000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:46652000-46658000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:46652000-46659600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:46652200-46659400	Enhancers	HepG2	liver
22	chr12:46652800-46655600	Weak transcription	Left Ventricle	heart
23	chr12:46653000-46655800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
24	chr12:46653000-46657000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:46653200-46655600	Enhancers	Fetal Intestine Large	intestine
26	chr12:46653400-46656000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr12:46653400-46656000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:46653400-46657800	Genic enhancers	NHEK	skin
29	chr12:46653400-46659600	Enhancers	Rectal Smooth Muscle	rectum
30	chr12:46653600-46655600	Enhancers	HSMM	muscle
31	chr12:46653600-46655800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:46653600-46655800	Enhancers	Fetal Intestine Small	intestine
33	chr12:46653600-46656000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:46653600-46656000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:46653600-46656200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr12:46653600-46656200	Genic enhancers	Primary T cells fromperipheralblood	blood
37	chr12:46653600-46657200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:46653600-46658200	Enhancers	Colon Smooth Muscle	Colon
39	chr12:46653600-46658600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:46653600-46659200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr12:46653800-46655800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:46653800-46655800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr12:46653800-46655800	Enhancers	HSMMtube	muscle
44	chr12:46653800-46655800	Enhancers	NH-A	brain
45	chr12:46653800-46656000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:46653800-46656000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
47	chr12:46653800-46656000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr12:46653800-46656000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:46653800-46656000	Enhancers	Fetal Lung	lung
50	chr12:46653800-46656000	Enhancers	Fetal Muscle Leg	muscle

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