Variant report

Variant	rs1857771
Chromosome Location	chr5:118605376-118605377
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:118605019..118607417-chr5:118636347..118638717,3	MCF-7	breast:
2	chr5:118604371..118606578-chr5:118640818..118642432,2	K562	blood:
3	chr5:118604371..118606788-chr5:118640818..118642448,2	K562	blood:
4	chr1:33282573..33283573-chr5:118604777..118605431,2	Hela-S3	cervix:
5	chr5:118322938..118326606-chr5:118602920..118605792,4	MCF-7	breast:
6	chr5:118406323..118408758-chr5:118602921..118606339,4	MCF-7	breast:
7	chr5:118323277..118326022-chr5:118603985..118605806,3	MCF-7	breast:
8	chr5:118605299..118606814-chr5:118613006..118614761,2	K562	blood:
9	chr5:118604990..118607098-chr5:118752315..118754043,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172869	Chromatin interaction
ENSG00000243333	Chromatin interaction
ENSG00000249494	Chromatin interaction
ENSG00000134684	Chromatin interaction
ENSG00000116497	Chromatin interaction
ENSG00000169570	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10035593	0.90[EUR][1000 genomes]
rs10037918	0.88[EUR][1000 genomes]
rs10051559	0.86[EUR][1000 genomes]
rs10072072	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10075997	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1394628	0.90[EUR][1000 genomes]
rs1504974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1504975	0.98[EUR][1000 genomes]
rs1504976	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553542	0.84[EUR][1000 genomes]
rs2271059	0.86[EUR][1000 genomes]
rs2404397	0.88[EUR][1000 genomes]
rs2896839	0.83[EUR][1000 genomes]
rs2896840	0.90[EUR][1000 genomes]
rs3797337	0.81[EUR][1000 genomes]
rs3992620	0.81[EUR][1000 genomes]
rs73242994	0.81[EUR][1000 genomes]
rs73242996	0.81[EUR][1000 genomes]
rs7736744	0.88[EUR][1000 genomes]
rs9327092	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1019788	chr5:118488501-118607405	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv537882	chr5:118488501-118607405	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118603000-118606400	Active TSS	GM12878-XiMat	blood
2	chr5:118603200-118606600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:118603400-118605400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr5:118603400-118605400	Active TSS	HSMMtube	muscle
5	chr5:118603400-118605600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:118603400-118605600	Active TSS	Brain Angular Gyrus	brain
7	chr5:118603600-118605400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:118603600-118605400	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr5:118603600-118605400	Active TSS	Brain Substantia Nigra	brain
10	chr5:118603600-118605400	Active TSS	Esophagus	oesophagus
11	chr5:118603600-118605400	Active TSS	Fetal Brain Female	brain
12	chr5:118603600-118605400	Active TSS	Gastric	stomach
13	chr5:118603600-118605400	Active TSS	Pancreas	Pancrea
14	chr5:118603600-118605400	Active TSS	Small Intestine	intestine
15	chr5:118603600-118605400	Active TSS	HSMM	muscle
16	chr5:118603600-118605600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:118603600-118605600	Active TSS	Aorta	Aorta
18	chr5:118603600-118605600	Active TSS	Fetal Kidney	kidney
19	chr5:118603600-118605600	Active TSS	Right Ventricle	heart
20	chr5:118603600-118605600	Active TSS	Stomach Mucosa	stomach
21	chr5:118603600-118605600	Active TSS	A549	lung
22	chr5:118603600-118605800	Active TSS	Primary T cells from cord blood	blood
23	chr5:118603600-118606000	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr5:118603600-118606200	Active TSS	Rectal Smooth Muscle	rectum
25	chr5:118603600-118606800	Active TSS	Placenta	Placenta
26	chr5:118603800-118605400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:118603800-118605400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:118603800-118605400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:118603800-118605400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
30	chr5:118603800-118605600	Active TSS	Fetal Stomach	stomach
31	chr5:118603800-118606000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:118603800-118606000	Active TSS	Primary B cells from peripheral blood	blood
33	chr5:118603800-118606600	Active TSS	Thymus	Thymus
34	chr5:118603800-118606800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr5:118603800-118606800	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr5:118603800-118607000	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr5:118604000-118605400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
38	chr5:118604000-118605400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:118604000-118605400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr5:118604000-118606000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:118604000-118606000	Transcr. at gene 5' and 3'	Dnd41	blood
42	chr5:118604000-118606200	Active TSS	Fetal Thymus	thymus
43	chr5:118604000-118606800	Active TSS	Primary T cells fromperipheralblood	blood
44	chr5:118604000-118606800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr5:118604000-118607000	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr5:118604200-118606200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr5:118604200-118606800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr5:118604400-118608000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:118604600-118605800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
50	chr5:118604600-118607000	Flanking Active TSS	Primary hematopoietic stem cells	blood

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