Variant report

Variant	rs62374133
Chromosome Location	chr5:118425754-118425755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118406491..118408879-chr5:118423582..118425820,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249494	Chromatin interaction
ENSG00000172869	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11241482	0.86[ASN][1000 genomes]
rs12188483	0.86[ASN][1000 genomes]
rs12516300	0.81[AFR][1000 genomes];0.80[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	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1018539	chr5:118355284-118445244	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3511406	chr5:118409810-118459495	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3511407	chr5:118409863-118459482	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118407800-118456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:118408400-118451800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:118409000-118435000	Weak transcription	Lung	lung
4	chr5:118409000-118471200	Weak transcription	Gastric	stomach
5	chr5:118409400-118435000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:118411200-118435000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:118412000-118435000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr5:118412200-118432800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr5:118412400-118435000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:118414000-118425800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr5:118414400-118472200	Weak transcription	Pancreas	Pancrea
13	chr5:118415000-118426800	Weak transcription	Fetal Lung	lung
14	chr5:118415000-118435000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:118415200-118435000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:118415200-118435200	Weak transcription	HepG2	liver
17	chr5:118415200-118443800	Weak transcription	Primary T cells from cord blood	blood
18	chr5:118415200-118447800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:118415400-118471600	Weak transcription	Right Ventricle	heart
20	chr5:118415600-118434600	Weak transcription	Dnd41	blood
21	chr5:118415800-118433600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:118416000-118430600	Weak transcription	Left Ventricle	heart
23	chr5:118416000-118439800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:118416000-118452600	Weak transcription	Psoas Muscle	Psoas
25	chr5:118416800-118441800	Weak transcription	Brain Substantia Nigra	brain
26	chr5:118417000-118427000	Weak transcription	Ovary	ovary
27	chr5:118417000-118434400	Weak transcription	Adipose Nuclei	Adipose
28	chr5:118417000-118446000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:118417000-118459200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:118417200-118429200	Weak transcription	Stomach Mucosa	stomach
31	chr5:118417200-118434200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:118417200-118451200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:118417200-118453800	Weak transcription	K562	blood
34	chr5:118417600-118425800	Weak transcription	Fetal Thymus	thymus
35	chr5:118417600-118434400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:118418800-118441200	Weak transcription	Brain Hippocampus Middle	brain
37	chr5:118419000-118430200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr5:118419000-118451800	Weak transcription	HUVEC	blood vessel
39	chr5:118419600-118427200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:118420000-118434400	Weak transcription	Thymus	Thymus
41	chr5:118422200-118444800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr5:118422400-118426800	Weak transcription	Primary B cells from cord blood	blood
43	chr5:118422400-118427000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:118422600-118427000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:118423800-118430600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:118424200-118430600	Weak transcription	Small Intestine	intestine
47	chr5:118424400-118427000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:118424400-118452000	Weak transcription	Hela-S3	cervix
49	chr5:118424400-118452000	Weak transcription	Osteobl	bone
50	chr5:118424400-118454400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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