Variant report

Variant	rs4835942
Chromosome Location	chr5:127437401-127437402
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127428694..127433227-chr5:127434862..127437524,4	K562	blood:
2	chr5:127416395..127419200-chr5:127437318..127440237,2	K562	blood:
3	chr5:127428726..127433227-chr5:127434885..127438247,5	K562	blood:
4	chr5:127416711..127418835-chr5:127436725..127439641,2	MCF-7	breast:
5	chr5:127435818..127437710-chr5:127440981..127443609,2	K562	blood:

Variant related genes	Relation type
ENSG00000245937	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10060390	0.84[CHB][hapmap]
rs10061367	0.84[CHB][hapmap]
rs10478798	0.84[CHB][hapmap]
rs10519973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10519974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13355233	0.84[CHB][hapmap];0.87[MEX][hapmap]
rs13357268	0.84[CHB][hapmap];0.83[MEX][hapmap]
rs1368270	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1560636	0.84[CHB][hapmap]
rs17164427	0.81[GIH][hapmap];0.83[MEX][hapmap]
rs17697126	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17697290	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17764718	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1864922	0.83[MEX][hapmap]
rs1864923	0.84[CHB][hapmap]
rs1962291	0.84[CHB][hapmap];0.87[MEX][hapmap]
rs2898096	0.84[CHB][hapmap]
rs3792866	0.84[CHB][hapmap];0.83[MEX][hapmap]
rs3805604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3805606	0.84[CHB][hapmap];0.83[MEX][hapmap]
rs3805616	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs3816006	0.84[CHB][hapmap]
rs4835938	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4835939	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4835941	0.84[CHB][hapmap]
rs4835943	0.84[CHB][hapmap]
rs4836360	0.84[CHB][hapmap]
rs4836361	0.84[CHB][hapmap]
rs4836362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4836365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4836366	0.84[CHB][hapmap]
rs4836367	0.84[CHB][hapmap];0.87[MEX][hapmap]
rs55763377	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58395264	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58597384	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62373688	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62373689	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62373694	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6867078	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6887847	0.83[CHB][hapmap]
rs73337306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7379655	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7713860	0.84[CHB][hapmap]
rs7718286	0.84[CHB][hapmap]
rs883074	0.84[CHB][hapmap]
rs9800302	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv4993	chr5:127405214-127445622	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv1825644	chr5:127427533-127450581	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127421400-127450200	Weak transcription	Fetal Thymus	thymus
2	chr5:127421600-127466800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:127423600-127444800	Weak transcription	Fetal Stomach	stomach
4	chr5:127423600-127494000	Weak transcription	K562	blood
5	chr5:127425800-127445000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:127430000-127441000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:127432400-127454600	Weak transcription	Fetal Kidney	kidney
8	chr5:127434400-127449000	Weak transcription	Dnd41	blood
9	chr5:127434600-127444000	Weak transcription	Fetal Intestine Large	intestine
10	chr5:127434800-127438600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:127434800-127445400	Weak transcription	Primary T cells from cord blood	blood
12	chr5:127434800-127450600	Weak transcription	Fetal Intestine Small	intestine
13	chr5:127435000-127437800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:127435000-127438600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:127435000-127441000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:127435000-127441000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr5:127435000-127445800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:127435000-127447600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:127435000-127447600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:127435000-127448600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:127435000-127448600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:127435000-127449600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr5:127435200-127450400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:127435200-127450800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:127435600-127445600	Weak transcription	Primary B cells from cord blood	blood
26	chr5:127435600-127449400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:127436000-127437600	Enhancers	Brain Cingulate Gyrus	brain
28	chr5:127436000-127437600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr5:127436000-127443200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:127436200-127437600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr5:127436200-127439800	Weak transcription	Small Intestine	intestine
32	chr5:127436400-127441000	Weak transcription	Brain Substantia Nigra	brain
33	chr5:127436600-127438200	Enhancers	Colon Smooth Muscle	Colon
34	chr5:127436800-127437600	Enhancers	Stomach Mucosa	stomach
35	chr5:127436800-127440800	Weak transcription	Brain Angular Gyrus	brain
36	chr5:127436800-127441000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr5:127436800-127445000	Weak transcription	Left Ventricle	heart
38	chr5:127437000-127438600	Weak transcription	Brain Hippocampus Middle	brain
39	chr5:127437000-127441000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr5:127437000-127449800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:127437200-127437600	Enhancers	NHDF-Ad	bronchial
42	chr5:127437200-127437800	Enhancers	A549	lung
43	chr5:127437200-127438200	Enhancers	Fetal Heart	heart
44	chr5:127437200-127449800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr5:127437400-127437600	Enhancers	Brain Anterior Caudate	brain
46	chr5:127437400-127437600	Enhancers	Right Atrium	heart
47	chr5:127437400-127437600	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr5:127437400-127437600	Enhancers	NH-A	brain
49	chr5:127437400-127437800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:127437400-127441000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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