Variant report

Variant	rs56394376
Chromosome Location	chr17:38589733-38589734
allele	C/T
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38588496..38590793-chr17:38771686..38774374,2	MCF-7	breast:
2	chr17:38518098..38520397-chr17:38589062..38590766,2	MCF-7	breast:
3	chr17:38588540..38590112-chr17:38602415..38604178,2	MCF-7	breast:
4	chr17:38580560..38584947-chr17:38585760..38591436,7	K562	blood:
5	chr17:38581114..38584947-chr17:38588775..38591436,4	K562	blood:
6	chr17:38587923..38591705-chr17:38591977..38594441,3	MCF-7	breast:
7	chr17:38587525..38592353-chr17:38597530..38601586,11	MCF-7	breast:
8	chr17:38587744..38590603-chr17:38590912..38592716,3	K562	blood:
9	chr17:38517929..38522150-chr17:38588397..38591798,3	K562	blood:
10	chr17:38587889..38589952-chr17:38605595..38608184,2	MCF-7	breast:
11	chr17:38588081..38591030-chr17:38591069..38592804,4	K562	blood:
12	chr17:38517929..38520889-chr17:38588435..38591798,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183153	Chromatin interaction
ENSG00000141753	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1009570	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10852940	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078945	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11657212	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1868758	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2015561	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35103116	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs584438	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs584828	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs598892	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs632224	0.92[EUR][1000 genomes];0.99[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	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv908223	chr17:38530799-38609187	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	24 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	chr17:38579600-38598800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:38584000-38592600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr17:38584600-38600200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr17:38588200-38590600	Enhancers	K562	blood
5	chr17:38588600-38589800	Enhancers	HepG2	liver
6	chr17:38588600-38590400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr17:38588600-38591200	Enhancers	Fetal Stomach	stomach
8	chr17:38588600-38592600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:38588800-38590200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr17:38589000-38590000	Enhancers	Fetal Intestine Large	intestine
11	chr17:38589000-38590800	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr17:38589200-38589800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:38589200-38589800	Enhancers	Fetal Brain Male	brain
14	chr17:38589200-38589800	Enhancers	Fetal Heart	heart
15	chr17:38589200-38589800	Enhancers	Fetal Lung	lung
16	chr17:38589200-38590000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr17:38589200-38590200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr17:38589200-38590200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr17:38589200-38590200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr17:38589200-38590400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:38589200-38590400	Enhancers	Fetal Thymus	thymus
22	chr17:38589200-38590400	Enhancers	Osteobl	bone
23	chr17:38589200-38590600	Enhancers	Fetal Muscle Leg	muscle
24	chr17:38589200-38590800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:38589400-38589800	Enhancers	Colon Smooth Muscle	Colon
26	chr17:38589400-38589800	Flanking Active TSS	Rectal Smooth Muscle	rectum
27	chr17:38589400-38589800	Enhancers	NHDF-Ad	bronchial
28	chr17:38589400-38590000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr17:38589400-38590200	Enhancers	Fetal Muscle Trunk	muscle
30	chr17:38589400-38590200	Enhancers	Right Atrium	heart
31	chr17:38589400-38590600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr17:38589400-38590600	Enhancers	Right Ventricle	heart
33	chr17:38589400-38590800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr17:38589400-38591200	Enhancers	Brain Germinal Matrix	brain
35	chr17:38589600-38590000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr17:38589600-38590000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr17:38589600-38590000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr17:38589600-38590000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr17:38589600-38590200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
40	chr17:38589600-38590400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr17:38589600-38590400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr17:38589600-38590400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr17:38589600-38590400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr17:38589600-38590400	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr17:38589600-38590400	Enhancers	Spleen	Spleen
46	chr17:38589600-38590600	Enhancers	Placenta	Placenta
47	chr17:38589600-38590600	Enhancers	Left Ventricle	heart
48	chr17:38589600-38590600	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr17:38589600-38590600	Enhancers	NHLF	lung
50	chr17:38589600-38592600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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