Variant report

Variant	rs7213469
Chromosome Location	chr17:59943288-59943289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr17:59935970-59945500	MCF-7	breast:	n/a	chr17:59941440-59941447 chr17:59941286-59941295 chr17:59940695-59940705

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59938592..59943097-chr17:59943271..59951102,13	K562	blood:
2	chr17:59942958..59945530-chr20:55789488..55792044,2	MCF-7	breast:
3	chr17:59939237..59943311-chr20:55795594..55800614,8	MCF-7	breast:
4	chr17:59936074..59944748-chr20:55835834..55847370,36	MCF-7	breast:
5	chr17:57913378..57915702-chr17:59942100..59944870,2	MCF-7	breast:
6	chr17:59929026..59944759-chr20:55831267..55853908,71	MCF-7	breast:
7	chr17:59940959..59943336-chr20:52762258..52765062,2	MCF-7	breast:
8	chr17:59943227..59945510-chr20:55801932..55803797,2	MCF-7	breast:
9	chr17:59941830..59943772-chr20:55763945..55765886,2	MCF-7	breast:
10	chr16:770041..772535-chr17:59941692..59943664,2	MCF-7	breast:

No data

Variant related genes	Relation type
BRIP1	TF binding region
ENSG00000235032	Chromatin interaction
ENSG00000103254	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000136492	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2138005	1.00[ASW][hapmap];0.81[LWK][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59176712	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7213672	0.83[AFR][1000 genomes]
rs73991950	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73991951	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9889643	0.83[MKK][hapmap]
rs9900338	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9900745	0.86[ASW][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9908729	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9909731	1.00[MEX][hapmap];0.83[MKK][hapmap]
rs9913705	0.82[LWK][hapmap];1.00[AMR][1000 genomes]
rs9914236	0.88[LWK][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9916776	0.83[MKK][hapmap]

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	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv916786	chr17:59890834-60103687	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59941200-59957000	Weak transcription	Spleen	Spleen
2	chr17:59941200-59964600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr17:59941400-59953200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:59941400-59953200	Weak transcription	Small Intestine	intestine
5	chr17:59941400-59957000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr17:59941400-59957600	Weak transcription	Gastric	stomach
7	chr17:59941400-59965400	Weak transcription	Lung	lung
8	chr17:59941400-59975000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr17:59941400-60004400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:59941400-60004400	Weak transcription	Aorta	Aorta
11	chr17:59941400-60004400	Weak transcription	Pancreas	Pancrea
12	chr17:59941600-59943800	Weak transcription	HSMM	muscle
13	chr17:59941600-59944400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr17:59941600-59944400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr17:59941600-59944400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr17:59941600-59944600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr17:59941600-59944600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr17:59941600-59944800	Weak transcription	Brain Anterior Caudate	brain
19	chr17:59941600-59945000	Weak transcription	Brain Hippocampus Middle	brain
20	chr17:59941600-59945000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr17:59941600-59945000	Weak transcription	NH-A	brain
22	chr17:59941600-59945200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:59941600-59945400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr17:59941600-59946200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr17:59941600-59946400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:59941600-59946400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr17:59941600-59946400	Weak transcription	Placenta	Placenta
28	chr17:59941600-59946400	Weak transcription	Fetal Thymus	thymus
29	chr17:59941600-59946600	Weak transcription	Left Ventricle	heart
30	chr17:59941600-59946800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr17:59941600-59947000	Weak transcription	Ovary	ovary
32	chr17:59941600-59947600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr17:59941600-59948600	Weak transcription	Fetal Muscle Leg	muscle
34	chr17:59941600-59953200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr17:59941600-59957000	Weak transcription	Esophagus	oesophagus
36	chr17:59941600-59957000	Weak transcription	Thymus	Thymus
37	chr17:59941600-59965200	Weak transcription	Psoas Muscle	Psoas
38	chr17:59941600-59965400	Weak transcription	Brain Substantia Nigra	brain
39	chr17:59941600-59965600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr17:59941600-59966800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr17:59941600-59979600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr17:59941600-59987600	Weak transcription	Right Ventricle	heart
43	chr17:59941600-60003600	Weak transcription	Stomach Mucosa	stomach
44	chr17:59941600-60004400	Weak transcription	Colonic Mucosa	Colon
45	chr17:59941800-59943600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr17:59941800-59943600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr17:59941800-59943800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr17:59941800-59943800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr17:59941800-59943800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr17:59941800-59944200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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