Variant report

Variant	rs1835874
Chromosome Location	chr5:57133250-57133251
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:57129335..57131464-chr5:57132447..57134423,2	K562	blood:
2	chr5:57131157..57133678-chr5:57139848..57142314,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10940579	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12659683	0.84[CEU][hapmap];0.90[AMR][1000 genomes]
rs1835875	0.87[AFR][1000 genomes]
rs1968422	0.84[CEU][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1972768	0.90[AMR][1000 genomes]
rs4323195	0.95[MEX][hapmap];0.90[AMR][1000 genomes]
rs4432842	0.86[CHD][hapmap];0.85[JPT][hapmap]
rs854037	0.84[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.86[EUR][1000 genomes];0.85[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	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57127400-57137400	Enhancers	NHEK	skin
2	chr5:57129200-57133800	Weak transcription	Placenta	Placenta
3	chr5:57129200-57136800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:57130200-57136000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:57130200-57139200	Enhancers	HMEC	breast
6	chr5:57130600-57134800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:57130600-57137800	Enhancers	HSMM	muscle
8	chr5:57131200-57137800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:57131400-57134000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:57131400-57136800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:57131400-57137400	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:57131400-57140000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:57131400-57141000	Weak transcription	Left Ventricle	heart
14	chr5:57131600-57134000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:57131600-57134000	Weak transcription	Fetal Stomach	stomach
16	chr5:57131600-57137200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:57131600-57137400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr5:57131800-57136800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:57132000-57136800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:57132000-57137800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:57132200-57133400	Weak transcription	NHLF	lung
22	chr5:57132400-57137200	Weak transcription	Fetal Brain Male	brain
23	chr5:57132600-57137400	Enhancers	HUVEC	blood vessel
24	chr5:57132600-57137600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:57132800-57133600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:57132800-57135000	Enhancers	Osteobl	bone
27	chr5:57132800-57135800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:57132800-57137400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:57132800-57139000	Enhancers	NHDF-Ad	bronchial
30	chr5:57133000-57134800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:57133000-57135600	Enhancers	NH-A	brain
32	chr5:57133000-57135800	Enhancers	Hela-S3	cervix
33	chr5:57133000-57137800	Enhancers	HSMMtube	muscle
34	chr5:57133200-57133400	Enhancers	A549	lung
35	chr5:57133200-57137400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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