Variant report

Variant	rs7216958
Chromosome Location	chr17:19706655-19706656
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19706246..19708436-chr17:19770568..19772505,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000083290	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1585751	1.00[EUR][1000 genomes]
rs16960503	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28491526	1.00[AMR][1000 genomes]
rs28632080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28661916	1.00[EUR][1000 genomes]
rs3744692	1.00[EUR][1000 genomes]
rs3744694	1.00[EUR][1000 genomes]
rs3760488	1.00[EUR][1000 genomes]
rs3786037	1.00[EUR][1000 genomes]
rs4646783	1.00[EUR][1000 genomes]
rs56407718	1.00[EUR][1000 genomes]
rs56705977	1.00[EUR][1000 genomes]
rs8066134	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8068565	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9890667	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9891047	1.00[AMR][1000 genomes]
rs9893138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9894723	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9898591	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9899365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900160	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9905570	0.83[AMR][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	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv482398	chr17:19673458-19808039	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1057469	chr17:19696714-19787062	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19673800-19769800	Weak transcription	NH-A	brain
2	chr17:19678200-19712000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:19680000-19726800	Weak transcription	NHLF	lung
4	chr17:19690200-19709000	Strong transcription	Adipose Nuclei	Adipose
5	chr17:19690800-19707600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:19696200-19707600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr17:19696800-19708600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr17:19698000-19707400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr17:19698000-19709400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr17:19700200-19722600	Weak transcription	Esophagus	oesophagus
11	chr17:19700200-19727000	Weak transcription	Right Ventricle	heart
12	chr17:19700400-19745200	Weak transcription	Stomach Mucosa	stomach
13	chr17:19700400-19768400	Weak transcription	Fetal Heart	heart
14	chr17:19700600-19708400	Strong transcription	Primary T cells from cord blood	blood
15	chr17:19700800-19769800	Weak transcription	HSMMtube	muscle
16	chr17:19701000-19707000	Weak transcription	A549	lung
17	chr17:19701000-19707600	Strong transcription	Fetal Brain Female	brain
18	chr17:19701000-19708600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr17:19701000-19710800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr17:19701000-19726600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr17:19701000-19726800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr17:19701000-19727000	Weak transcription	Thymus	Thymus
23	chr17:19701000-19728000	Weak transcription	HUVEC	blood vessel
24	chr17:19701000-19728200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr17:19701000-19732400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr17:19701000-19743200	Weak transcription	Gastric	stomach
27	chr17:19701000-19743400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr17:19701000-19748600	Weak transcription	Spleen	Spleen
29	chr17:19701000-19753400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr17:19701000-19766200	Weak transcription	Primary B cells from cord blood	blood
31	chr17:19701000-19770000	Weak transcription	Colonic Mucosa	Colon
32	chr17:19701200-19710400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:19701200-19710400	Weak transcription	Pancreas	Pancrea
34	chr17:19701200-19710600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr17:19701200-19711800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr17:19701200-19758400	Weak transcription	Small Intestine	intestine
37	chr17:19701400-19726800	Weak transcription	HSMM	muscle
38	chr17:19701600-19707600	Strong transcription	Fetal Lung	lung
39	chr17:19701800-19709000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr17:19701800-19712000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:19701800-19742800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr17:19702000-19707400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr17:19702000-19713400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr17:19702800-19708600	Strong transcription	Brain Cingulate Gyrus	brain
45	chr17:19702800-19708800	Strong transcription	Brain Hippocampus Middle	brain
46	chr17:19702800-19713000	Strong transcription	Brain Germinal Matrix	brain
47	chr17:19703200-19707400	Strong transcription	Brain Angular Gyrus	brain
48	chr17:19703400-19709000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr17:19703400-19711800	Weak transcription	Osteobl	bone
50	chr17:19703800-19709800	Weak transcription	Aorta	Aorta

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