Variant report

Variant	rs13166597
Chromosome Location	chr5:127302466-127302467
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:2)
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	chr5:127212523..127214164-chr5:127301948..127304809,2	MCF-7	breast:
2	chr5:127301710..127304376-chr5:127421505..127423068,2	MCF-7	breast:
3	chr5:127293170..127295868-chr5:127299899..127303794,5	MCF-7	breast:
4	chr5:127286727..127288267-chr5:127302316..127305106,2	MCF-7	breast:
5	chr5:127256203..127258500-chr5:127301825..127304365,2	MCF-7	breast:
6	chr5:127297981..127299833-chr5:127300238..127305210,4	MCF-7	breast:
7	chr5:127302253..127305011-chr5:127417884..127420763,3	MCF-7	breast:
8	chr5:127296445..127298165-chr5:127301266..127303118,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBN2-2	chr5:127302427-127302620	ENSG00000245937
2	lnc-SLC12A2-3	chr5:127301573-127302616	NONHSAT103639

No data

Variant related genes	Relation type
ENSG00000245937	Chromatin interaction
ENSG00000064651	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4836356	0.84[ASN][1000 genomes]
rs61388269	0.87[ASN][1000 genomes]
rs6862145	0.89[ASN][1000 genomes]
rs6889756	0.82[EUR][1000 genomes]
rs763880	0.89[ASN][1000 genomes]
rs7722252	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127285800-127303800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr5:127290600-127332000	Weak transcription	Aorta	Aorta
3	chr5:127292800-127314400	Weak transcription	Pancreas	Pancrea
4	chr5:127293200-127303600	Weak transcription	Esophagus	oesophagus
5	chr5:127294400-127302800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:127295600-127302600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:127295600-127304400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:127295800-127322800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:127296200-127303000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:127296200-127303800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:127296200-127304800	Weak transcription	Brain Substantia Nigra	brain
12	chr5:127296200-127306000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:127296200-127307200	Weak transcription	NHLF	lung
14	chr5:127296200-127322600	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:127296400-127302800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:127296400-127302800	Weak transcription	Colonic Mucosa	Colon
17	chr5:127296400-127302800	Weak transcription	HMEC	breast
18	chr5:127296400-127302800	Weak transcription	NHEK	skin
19	chr5:127296400-127303000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:127296400-127303800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:127296400-127304000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:127296400-127304200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr5:127296400-127304800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:127296400-127304800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:127296400-127305200	Weak transcription	Brain Anterior Caudate	brain
26	chr5:127296400-127306400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:127297000-127305200	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:127297600-127302800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:127297600-127303000	Weak transcription	Thymus	Thymus
30	chr5:127297600-127304600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr5:127297600-127313200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr5:127297600-127332000	Weak transcription	Primary B cells from cord blood	blood
33	chr5:127297800-127304000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr5:127297800-127306400	Weak transcription	Psoas Muscle	Psoas
35	chr5:127297800-127306400	Weak transcription	Right Atrium	heart
36	chr5:127297800-127323200	Weak transcription	Gastric	stomach
37	chr5:127297800-127323600	Weak transcription	HSMMtube	muscle
38	chr5:127297800-127358400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr5:127298000-127304000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:127298400-127303400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr5:127298400-127303800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr5:127298400-127304800	Weak transcription	Small Intestine	intestine
43	chr5:127298600-127314400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr5:127299400-127303800	Weak transcription	NHDF-Ad	bronchial
45	chr5:127300600-127312600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr5:127301800-127302600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:127301800-127302600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr5:127301800-127302600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:127301800-127302600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:127301800-127302600	Strong transcription	Left Ventricle	heart

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