Variant report

Variant	rs2047025
Chromosome Location	chr4:95533967-95533968
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	chr4:95533715..95536221-chr4:95536499..95538318,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10031423	0.84[EUR][1000 genomes]
rs10033326	0.90[CEU][hapmap];0.83[CHB][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10034824	0.88[CHB][hapmap];0.85[AMR][1000 genomes]
rs1043853	0.81[EUR][1000 genomes]
rs1048627	0.81[EUR][1000 genomes]
rs11097433	0.80[EUR][1000 genomes]
rs11723532	0.86[EUR][1000 genomes]
rs11724023	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11725850	0.90[EUR][1000 genomes]
rs11732668	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs11732687	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11734014	0.87[EUR][1000 genomes]
rs12331240	0.80[EUR][1000 genomes]
rs12500426	0.85[CEU][hapmap]
rs12507763	0.80[EUR][1000 genomes]
rs12511111	0.81[EUR][1000 genomes]
rs12639623	0.92[CEU][hapmap];0.83[AMR][1000 genomes]
rs12639887	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12639980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12641023	0.87[EUR][1000 genomes]
rs12642449	0.89[CEU][hapmap]
rs12649976	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12650641	0.82[EUR][1000 genomes]
rs13110828	0.83[EUR][1000 genomes]
rs13122786	0.93[CEU][hapmap]
rs13130496	0.81[EUR][1000 genomes]
rs13135257	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1543013	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs2280002	0.82[EUR][1000 genomes]
rs2452601	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28740868	0.85[EUR][1000 genomes]
rs2902987	0.80[EUR][1000 genomes]
rs34403066	0.87[EUR][1000 genomes]
rs34438564	0.87[EUR][1000 genomes]
rs34507709	0.81[EUR][1000 genomes]
rs35959898	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs3805263	0.96[CEU][hapmap];0.81[CHB][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3805264	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3805266	0.85[CEU][hapmap]
rs4634230	0.89[CEU][hapmap]
rs4699312	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs4699567	0.87[EUR][1000 genomes]
rs5013417	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60195134	0.88[EUR][1000 genomes]
rs6532495	0.80[EUR][1000 genomes]
rs6532496	0.80[EUR][1000 genomes]
rs6532497	0.80[EUR][1000 genomes]
rs6829381	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs6853490	0.82[AMR][1000 genomes]
rs6854173	0.90[CEU][hapmap];0.83[CHB][hapmap];0.81[EUR][1000 genomes]
rs71601224	0.88[EUR][1000 genomes]
rs7662466	0.89[CEU][hapmap]
rs7690296	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs7697149	0.84[EUR][1000 genomes]
rs902981	0.86[CEU][hapmap]
rs951613	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs973995	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95489600-95539200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:95493200-95540200	Weak transcription	Small Intestine	intestine
3	chr4:95493200-95584800	Weak transcription	Primary B cells from cord blood	blood
4	chr4:95497200-95553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:95497200-95569400	Weak transcription	Esophagus	oesophagus
6	chr4:95497400-95542000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:95497600-95539200	Weak transcription	HepG2	liver
8	chr4:95507200-95548200	Weak transcription	Psoas Muscle	Psoas
9	chr4:95507200-95548600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:95507800-95539200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:95511200-95554800	Weak transcription	NHDF-Ad	bronchial
12	chr4:95513000-95539000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:95514200-95539200	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:95514400-95539200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:95514400-95544600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:95514600-95539200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr4:95514600-95542600	Weak transcription	NHEK	skin
18	chr4:95514800-95539000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:95515000-95538600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:95515000-95562000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:95521600-95544400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:95522200-95538200	Weak transcription	Placenta	Placenta
23	chr4:95525000-95538600	Weak transcription	Fetal Intestine Small	intestine
24	chr4:95525000-95538600	Weak transcription	Right Ventricle	heart
25	chr4:95525000-95539200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:95525000-95539200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:95525000-95569600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:95525000-95586400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:95525000-95590000	Weak transcription	Lung	lung
30	chr4:95525400-95539200	Weak transcription	HSMMtube	muscle
31	chr4:95525400-95562200	Weak transcription	NHLF	lung
32	chr4:95526600-95539000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:95526600-95539200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:95526600-95539200	Weak transcription	Ovary	ovary
35	chr4:95526600-95544800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:95526800-95534200	Weak transcription	Brain Substantia Nigra	brain
37	chr4:95526800-95539000	Weak transcription	Adipose Nuclei	Adipose
38	chr4:95526800-95539200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr4:95526800-95551000	Weak transcription	Brain Anterior Caudate	brain
40	chr4:95527800-95592200	Weak transcription	Pancreas	Pancrea
41	chr4:95528000-95555000	Weak transcription	Aorta	Aorta
42	chr4:95529400-95534000	Strong transcription	NH-A	brain
43	chr4:95531600-95539200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr4:95532400-95539200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr4:95532400-95544600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr4:95532600-95536800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:95532600-95536800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr4:95532600-95537000	Weak transcription	Left Ventricle	heart
49	chr4:95532600-95538400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:95532600-95538800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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