Variant report

Variant	rs351937
Chromosome Location	chr5:52006124-52006125
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52004585..52006251-chr5:52102692..52104640,2	K562	blood:
2	chr5:52002898..52006870-chr5:52009396..52011891,3	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10512992	1.00[YRI][hapmap]
rs12332623	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1626287	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1645393	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1645394	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs164611	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs164612	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1668506	0.96[ASN][1000 genomes]
rs244481	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs244491	0.85[ASN][1000 genomes]
rs244493	0.87[ASN][1000 genomes]
rs244495	0.87[ASN][1000 genomes]
rs29976	0.89[ASN][1000 genomes]
rs29977	0.91[ASN][1000 genomes]
rs29980	0.88[ASN][1000 genomes]
rs29982	0.91[ASN][1000 genomes]
rs351933	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351940	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs39811	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs599698	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs651393	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs657796	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs658771	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs664248	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS 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	43 gene(s)	inside rSNPs	diseases
4	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:51998600-52008800	Enhancers	Primary T cells from cord blood	blood
2	chr5:51999600-52007000	Weak transcription	Psoas Muscle	Psoas
3	chr5:52000800-52009000	Enhancers	Dnd41	blood
4	chr5:52001200-52006600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:52002200-52007600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr5:52002400-52008200	Enhancers	Small Intestine	intestine
7	chr5:52003000-52007800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr5:52003800-52006200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:52003800-52007200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:52004000-52006400	Weak transcription	Spleen	Spleen
11	chr5:52004000-52007600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:52004000-52007600	Enhancers	Osteobl	bone
13	chr5:52004200-52006400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr5:52004200-52007400	Enhancers	NHLF	lung
15	chr5:52004400-52006200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:52004400-52007000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:52004400-52007200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr5:52004400-52007400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:52004600-52007400	Enhancers	NHDF-Ad	bronchial
20	chr5:52005000-52006200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr5:52005000-52006200	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr5:52005000-52006400	Enhancers	Colon Smooth Muscle	Colon
23	chr5:52005000-52007400	Enhancers	HSMM	muscle
24	chr5:52005200-52007200	Enhancers	Fetal Kidney	kidney
25	chr5:52005200-52007800	Enhancers	Hela-S3	cervix
26	chr5:52005200-52008000	Enhancers	Fetal Intestine Small	intestine
27	chr5:52005400-52006200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:52005400-52006600	Flanking Active TSS	HepG2	liver
29	chr5:52005400-52008200	Enhancers	Fetal Thymus	thymus
30	chr5:52005800-52006200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:52005800-52006200	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr5:52005800-52006800	Weak transcription	HUVEC	blood vessel
33	chr5:52005800-52007000	Weak transcription	HSMMtube	muscle
34	chr5:52005800-52007200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:52005800-52007200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:52005800-52007800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr5:52005800-52007800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr5:52005800-52008000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr5:52006000-52006400	Enhancers	Fetal Intestine Large	intestine
40	chr5:52006000-52006400	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr5:52006000-52007200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr5:52006000-52007200	Weak transcription	Adipose Nuclei	Adipose
43	chr5:52006000-52008400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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