Variant report

Variant	rs6892204
Chromosome Location	chr5:118605139-118605140
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 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	chr5:118604990..118607098-chr5:118752315..118754043,2	K562	blood:

No data

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10073801	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2404396	0.83[ASN][1000 genomes]
rs2404398	0.83[ASN][1000 genomes]
rs34867936	0.81[ASN][1000 genomes]
rs7356611	0.92[ASN][1000 genomes]
rs9327093	0.86[AFR][1000 genomes];0.88[ASN][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:126 , 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	chr5:118603400-118605200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:118603400-118605200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr5:118603400-118605200	Active TSS	Psoas Muscle	Psoas
6	chr5:118603400-118605200	Active TSS	NHLF	lung
7	chr5:118603400-118605400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr5:118603400-118605400	Active TSS	HSMMtube	muscle
9	chr5:118603400-118605600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:118603400-118605600	Active TSS	Brain Angular Gyrus	brain
11	chr5:118603600-118605200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:118603600-118605200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:118603600-118605200	Active TSS	Brain Hippocampus Middle	brain
14	chr5:118603600-118605200	Active TSS	Lung	lung
15	chr5:118603600-118605400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:118603600-118605400	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr5:118603600-118605400	Active TSS	Brain Substantia Nigra	brain
18	chr5:118603600-118605400	Active TSS	Esophagus	oesophagus
19	chr5:118603600-118605400	Active TSS	Fetal Brain Female	brain
20	chr5:118603600-118605400	Active TSS	Gastric	stomach
21	chr5:118603600-118605400	Active TSS	Pancreas	Pancrea
22	chr5:118603600-118605400	Active TSS	Small Intestine	intestine
23	chr5:118603600-118605400	Active TSS	HSMM	muscle
24	chr5:118603600-118605600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:118603600-118605600	Active TSS	Aorta	Aorta
26	chr5:118603600-118605600	Active TSS	Fetal Kidney	kidney
27	chr5:118603600-118605600	Active TSS	Right Ventricle	heart
28	chr5:118603600-118605600	Active TSS	Stomach Mucosa	stomach
29	chr5:118603600-118605600	Active TSS	A549	lung
30	chr5:118603600-118605800	Active TSS	Primary T cells from cord blood	blood
31	chr5:118603600-118606000	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr5:118603600-118606200	Active TSS	Rectal Smooth Muscle	rectum
33	chr5:118603600-118606800	Active TSS	Placenta	Placenta
34	chr5:118603800-118605200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr5:118603800-118605200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:118603800-118605200	Active TSS	Primary monocytes fromperipheralblood	blood
37	chr5:118603800-118605200	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr5:118603800-118605200	Active TSS	Spleen	Spleen
39	chr5:118603800-118605400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:118603800-118605400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:118603800-118605400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr5:118603800-118605400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
43	chr5:118603800-118605600	Active TSS	Fetal Stomach	stomach
44	chr5:118603800-118606000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:118603800-118606000	Active TSS	Primary B cells from peripheral blood	blood
46	chr5:118603800-118606600	Active TSS	Thymus	Thymus
47	chr5:118603800-118606800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr5:118603800-118606800	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr5:118603800-118607000	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr5:118604000-118605400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood

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