Variant report

Variant	rs2287872
Chromosome Location	chr5:52367666-52367667
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52366890..52369025-chr5:52371234..52373244,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1109527	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1421934	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs152089	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs153138	0.82[EUR][1000 genomes]
rs153140	0.82[EUR][1000 genomes]
rs1541689	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1833557	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2112290	0.83[ASN][1000 genomes]
rs2406599	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs25826	0.80[EUR][1000 genomes]
rs26346	0.85[EUR][1000 genomes]
rs27406	0.86[EUR][1000 genomes]
rs27420	0.82[EUR][1000 genomes]
rs27915	0.87[YRI][hapmap]
rs30099	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs30727	0.86[EUR][1000 genomes]
rs3212581	0.85[AFR][1000 genomes]
rs3212616	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs43188	0.85[EUR][1000 genomes]
rs7719848	0.88[YRI][hapmap]
rs996765	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830296	chr5:52209528-52410253	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv881652	chr5:52323568-52385312	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv880389	chr5:52333420-52375199	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv881388	chr5:52339234-52375536	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv881626	chr5:52350521-52370174	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv880601	chr5:52350521-52375927	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv598168	chr5:52355516-52373810	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv881522	chr5:52357916-52370521	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv880866	chr5:52358262-52378295	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv880427	chr5:52363961-52370174	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv881336	chr5:52366284-52374088	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv881091	chr5:52366284-52375199	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv881684	chr5:52366905-52376916	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52328000-52369200	Weak transcription	Fetal Intestine Small	intestine
2	chr5:52333800-52369800	Weak transcription	Colonic Mucosa	Colon
3	chr5:52333800-52392600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:52334800-52380800	Weak transcription	Stomach Mucosa	stomach
5	chr5:52334800-52391200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:52336400-52399800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:52337400-52369000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:52337400-52370200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:52341200-52396400	Strong transcription	HMEC	breast
10	chr5:52341400-52396400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:52342600-52383800	Strong transcription	NHEK	skin
12	chr5:52343400-52392800	Weak transcription	Left Ventricle	heart
13	chr5:52344000-52369200	Weak transcription	Pancreas	Pancrea
14	chr5:52346200-52386800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:52346600-52369200	Weak transcription	Brain Angular Gyrus	brain
16	chr5:52347200-52370000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:52347600-52387000	Weak transcription	Fetal Stomach	stomach
18	chr5:52347800-52369200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:52347800-52395000	Weak transcription	Psoas Muscle	Psoas
20	chr5:52348600-52371000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:52348600-52394800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:52349000-52370200	Weak transcription	Dnd41	blood
23	chr5:52349400-52379600	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:52349600-52369000	Weak transcription	Lung	lung
25	chr5:52349600-52371400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:52352400-52379200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:52352400-52389800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:52353000-52367800	Weak transcription	Aorta	Aorta
29	chr5:52354200-52368800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr5:52354200-52372000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:52355600-52371000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:52356800-52370800	Weak transcription	Brain Anterior Caudate	brain
33	chr5:52356800-52394000	Weak transcription	Fetal Kidney	kidney
34	chr5:52357200-52369200	Weak transcription	Esophagus	oesophagus
35	chr5:52357200-52371400	Weak transcription	Gastric	stomach
36	chr5:52357400-52367800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:52357400-52369000	Weak transcription	Brain Hippocampus Middle	brain
38	chr5:52357400-52370400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:52359400-52380000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:52360200-52388800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:52360600-52374200	Strong transcription	Hela-S3	cervix
42	chr5:52361200-52392800	Weak transcription	Small Intestine	intestine
43	chr5:52361800-52368200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:52362200-52387800	Strong transcription	HepG2	liver
45	chr5:52362400-52382400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:52363000-52367800	Enhancers	Osteobl	bone
47	chr5:52363200-52376400	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr5:52363400-52382600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:52364000-52369000	Weak transcription	A549	lung
50	chr5:52364200-52374000	Weak transcription	H9 Cell Line	embryonic stem cell

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