Variant report

Variant	rs17057850
Chromosome Location	chr13:38924962-38924963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:38921186..38924004-chr13:38924043..38925621,2	MCF-7	breast:
2	chr13:38924316..38926531-chr13:38938318..38940718,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120686	Chromatin interaction

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

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

rs_ID	r²[population]
rs10507471	1.00[AMR][1000 genomes]
rs10507472	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11838417	1.00[AMR][1000 genomes]
rs11838861	1.00[AMR][1000 genomes]
rs11839922	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17057779	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17057796	1.00[AMR][1000 genomes]
rs17057811	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17057855	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17057857	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17057937	1.00[AMR][1000 genomes]
rs17057940	1.00[AMR][1000 genomes]
rs17057980	1.00[AMR][1000 genomes]
rs17057987	1.00[AMR][1000 genomes]
rs2231327	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7326143	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7327873	1.00[AMR][1000 genomes]
rs7330234	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7338651	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7983982	0.87[AFR][1000 genomes];1.00[AMR][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	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv869125	chr13:38550449-39132813	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949406	chr13:38561474-39033484	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv561512	chr13:38881318-38930893	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv900005	chr13:38881318-38932949	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv976234	chr13:38924727-38933604	Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv900006	chr13:38924871-38970825	Genic enhancers ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38922400-38925200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr13:38922600-38925000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr13:38922600-38925000	Active TSS	K562	blood
4	chr13:38922600-38925200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:38922600-38925200	Active TSS	HSMMtube	muscle
6	chr13:38922600-38926000	Active TSS	Right Atrium	heart
7	chr13:38922800-38925000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr13:38922800-38925000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:38922800-38925000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr13:38922800-38925000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:38922800-38925000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:38922800-38925000	Active TSS	Aorta	Aorta
13	chr13:38922800-38925000	Active TSS	Fetal Intestine Large	intestine
14	chr13:38922800-38925000	Active TSS	GM12878-XiMat	blood
15	chr13:38922800-38925200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr13:38922800-38925200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr13:38922800-38925200	Active TSS	NHLF	lung
18	chr13:38922800-38926200	Active TSS	Right Ventricle	heart
19	chr13:38923000-38925000	Active TSS	H9 Cell Line	embryonic stem cell
20	chr13:38923000-38925000	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr13:38923000-38925000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:38923000-38925000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:38923000-38925000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr13:38923000-38925000	Active TSS	Fetal Muscle Leg	muscle
25	chr13:38923000-38925000	Active TSS	Placenta	Placenta
26	chr13:38923000-38925000	Active TSS	Fetal Thymus	thymus
27	chr13:38923000-38925000	Active TSS	NHDF-Ad	bronchial
28	chr13:38923000-38925200	Active TSS	Colonic Mucosa	Colon
29	chr13:38923000-38925200	Active TSS	Fetal Muscle Trunk	muscle
30	chr13:38923000-38925200	Active TSS	Ovary	ovary
31	chr13:38923000-38925400	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr13:38923000-38925400	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr13:38923000-38925400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr13:38923000-38925400	Active TSS	Left Ventricle	heart
35	chr13:38923000-38925400	Active TSS	Pancreas	Pancrea
36	chr13:38923000-38925600	Active TSS	A549	lung
37	chr13:38923000-38926000	Active TSS	Psoas Muscle	Psoas
38	chr13:38923200-38925000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr13:38923200-38925000	Active TSS	HSMM	muscle
40	chr13:38923200-38925000	Active TSS	NHEK	skin
41	chr13:38923200-38925200	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr13:38923600-38925000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr13:38923800-38925000	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr13:38924000-38925000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
45	chr13:38924000-38925200	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr13:38924000-38925200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr13:38924200-38925200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr13:38924200-38925400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr13:38924400-38925000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr13:38924400-38925000	Flanking Active TSS	Primary B cells from peripheral blood	blood

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