Variant report

Variant	rs11936912
Chromosome Location	chr4:57947022-57947023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57943158..57945422-chr4:57946459..57948764,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10010274	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1111626	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1111627	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1111628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1111629	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573061	0.82[CEU][hapmap]
rs1277296	0.82[CEU][hapmap]
rs17182939	0.82[CEU][hapmap]
rs2412776	0.85[CHD][hapmap]
rs2412787	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2899085	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4309904	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6554404	0.82[CEU][hapmap]
rs6554414	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6837593	0.82[CEU][hapmap]
rs73242637	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7654665	0.82[CEU][hapmap]
rs7663799	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57932400-57947600	Genic enhancers	Osteobl	bone
2	chr4:57934400-57951600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:57934600-57948200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:57935800-57948000	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:57937400-57948000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:57938000-57955800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr4:57939800-57949800	Enhancers	HMEC	breast
8	chr4:57942000-57947800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:57942800-57960400	Weak transcription	Psoas Muscle	Psoas
10	chr4:57943200-57950000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:57943800-57948600	Enhancers	HSMM	muscle
12	chr4:57943800-57950200	Enhancers	NHLF	lung
13	chr4:57944000-57948200	Enhancers	Fetal Lung	lung
14	chr4:57944000-57948400	Enhancers	Fetal Stomach	stomach
15	chr4:57944400-57964000	Weak transcription	Fetal Thymus	thymus
16	chr4:57944600-57947400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr4:57944800-57947800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:57944800-57950000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:57945000-57948200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:57945000-57950000	Enhancers	NHDF-Ad	bronchial
21	chr4:57945200-57947200	Enhancers	Aorta	Aorta
22	chr4:57945200-57958000	Weak transcription	Gastric	stomach
23	chr4:57945200-57960400	Weak transcription	Pancreas	Pancrea
24	chr4:57945400-57948200	Enhancers	Fetal Heart	heart
25	chr4:57945400-57948400	Enhancers	HepG2	liver
26	chr4:57945400-57948600	Enhancers	Brain Hippocampus Middle	brain
27	chr4:57945400-57948800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:57945400-57950000	Enhancers	NHEK	skin
29	chr4:57945600-57948400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr4:57945600-57948600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr4:57945600-57948600	Enhancers	Colon Smooth Muscle	Colon
32	chr4:57945600-57948800	Enhancers	Fetal Kidney	kidney
33	chr4:57945800-57947200	Enhancers	Stomach Smooth Muscle	stomach
34	chr4:57945800-57948000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr4:57945800-57948000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:57945800-57948600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:57946000-57948400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:57946000-57950000	Enhancers	Left Ventricle	heart
39	chr4:57946200-57947200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:57946200-57947200	Enhancers	Spleen	Spleen
41	chr4:57946200-57947400	Enhancers	A549	lung
42	chr4:57946200-57947600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr4:57946200-57947800	Enhancers	Lung	lung
44	chr4:57946200-57948200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:57946200-57948600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:57946200-57949200	Enhancers	Right Atrium	heart
47	chr4:57946400-57947200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:57946400-57948200	Weak transcription	Brain Anterior Caudate	brain
49	chr4:57946400-57948400	Weak transcription	Fetal Intestine Small	intestine
50	chr4:57946600-57948400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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