Variant report

Variant	rs1697938
Chromosome Location	chr5:40854682-40854683
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40853807..40855420-chr5:40862463..40864172,2	K562	blood:
2	chr5:40825699..40827775-chr5:40853184..40855555,2	MCF-7	breast:
3	chr5:40847291..40849626-chr5:40854457..40858364,3	K562	blood:
4	chr5:40839582..40842415-chr5:40852942..40856062,3	K562	blood:
5	chr5:40853432..40855800-chr5:40856837..40858853,2	K562	blood:

Variant related genes	Relation type
ENSG00000132357	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10067114	0.84[ASN][1000 genomes]
rs10071209	0.83[ASN][1000 genomes]
rs10472345	0.81[ASN][1000 genomes]
rs1376178	0.81[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2122569	0.81[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2443035	0.81[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2443040	0.83[ASN][1000 genomes]
rs2459465	0.81[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2459467	0.83[ASN][1000 genomes]
rs2597746	0.81[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs323565	0.81[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs324063	0.84[ASN][1000 genomes]
rs324066	0.84[ASN][1000 genomes]
rs324067	0.83[ASN][1000 genomes]
rs324068	0.83[ASN][1000 genomes]
rs324072	0.81[ASN][1000 genomes]
rs364443	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs420220	0.89[ASN][1000 genomes]
rs438652	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs441073	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6861054	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6887212	0.89[ASN][1000 genomes]
rs837383	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs837388	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[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	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40842800-40856000	Weak transcription	Right Ventricle	heart
2	chr5:40843600-40857800	Weak transcription	Osteobl	bone
3	chr5:40849800-40854800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr5:40849800-40856000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:40849800-40857400	Weak transcription	Primary B cells from cord blood	blood
6	chr5:40851200-40855400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:40851400-40855000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr5:40851800-40854800	Strong transcription	Lung	lung
9	chr5:40851800-40856200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:40852000-40856000	Weak transcription	Fetal Lung	lung
11	chr5:40852000-40856400	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr5:40852200-40854800	Strong transcription	Duodenum Mucosa	Duodenum
13	chr5:40852600-40855200	Strong transcription	Placenta	Placenta
14	chr5:40852800-40865200	Weak transcription	Pancreas	Pancrea
15	chr5:40853000-40856200	Weak transcription	Left Ventricle	heart
16	chr5:40853400-40855000	Weak transcription	Small Intestine	intestine
17	chr5:40853400-40857000	Weak transcription	Hela-S3	cervix
18	chr5:40853400-40857600	Weak transcription	HUVEC	blood vessel
19	chr5:40853800-40855400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:40853800-40856000	Enhancers	K562	blood
21	chr5:40854000-40855600	Weak transcription	Primary T cells from cord blood	blood
22	chr5:40854000-40855800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:40854200-40855600	Weak transcription	Liver	Liver
24	chr5:40854400-40854800	Weak transcription	Aorta	Aorta
25	chr5:40854400-40856000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:40854400-40856000	Weak transcription	Ovary	ovary
27	chr5:40854400-40856200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:40854400-40856200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr5:40854400-40856200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:40854600-40856200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:40854600-40856200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr5:40854600-40856200	Weak transcription	Fetal Stomach	stomach
33	chr5:40854600-40856400	Weak transcription	Fetal Intestine Small	intestine
34	chr5:40854600-40857400	Weak transcription	Adipose Nuclei	Adipose
35	chr5:40854600-40857400	Weak transcription	Gastric	stomach
36	chr5:40854600-40857400	Weak transcription	Spleen	Spleen
37	chr5:40854600-40857600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:40854600-40862600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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