Variant report

Variant	rs17005291
Chromosome Location	chr3:69113591-69113592
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	chr3:69112430..69115275-chr3:69125875..69130297,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144744	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17005231	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17005324	0.89[AFR][1000 genomes]
rs17005397	0.83[EUR][1000 genomes]
rs17005400	0.83[EUR][1000 genomes]
rs4615083	0.83[EUR][1000 genomes]
rs4855355	0.83[EUR][1000 genomes]
rs5017791	0.83[EUR][1000 genomes]
rs5017792	0.83[EUR][1000 genomes]
rs55978846	0.83[EUR][1000 genomes]
rs58798960	0.83[EUR][1000 genomes]
rs60204248	0.83[EUR][1000 genomes]
rs61207882	0.83[EUR][1000 genomes]
rs937863	0.83[EUR][1000 genomes]
rs9825485	0.83[EUR][1000 genomes]
rs9843043	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876933	chr3:69059023-69227379	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv520488	chr3:69104752-69114005	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv876934	chr3:69111512-69166895	Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69101400-69127000	Weak transcription	Small Intestine	intestine
2	chr3:69101800-69128400	Weak transcription	Aorta	Aorta
3	chr3:69102000-69128200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:69102000-69128400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:69102200-69114000	Strong transcription	NH-A	brain
6	chr3:69102200-69127200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:69102400-69116400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:69102800-69113600	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr3:69102800-69113800	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:69102800-69116600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:69103200-69113800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr3:69103600-69116200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr3:69103800-69113800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr3:69104000-69113600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:69104000-69113800	Strong transcription	HUVEC	blood vessel
16	chr3:69107400-69113600	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr3:69107400-69115600	Strong transcription	Liver	Liver
18	chr3:69107600-69113600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:69107800-69113600	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr3:69107800-69115000	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:69108000-69113600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:69108400-69128200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:69108600-69117000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:69108600-69121600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr3:69108600-69121600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr3:69108800-69115000	Strong transcription	Primary B cells from cord blood	blood
27	chr3:69109200-69114800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr3:69109200-69118000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:69109200-69121600	Weak transcription	Fetal Brain Male	brain
30	chr3:69110200-69127000	Weak transcription	Hela-S3	cervix
31	chr3:69110400-69120000	Weak transcription	HepG2	liver
32	chr3:69110400-69122000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr3:69110600-69127000	Weak transcription	Brain Angular Gyrus	brain
34	chr3:69110600-69127600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr3:69110600-69128200	Weak transcription	Right Ventricle	heart
36	chr3:69110600-69128400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:69110600-69128400	Weak transcription	Gastric	stomach
38	chr3:69110600-69128400	Weak transcription	Psoas Muscle	Psoas
39	chr3:69110800-69114200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:69110800-69114200	Weak transcription	Fetal Intestine Small	intestine
41	chr3:69110800-69114600	Weak transcription	Fetal Stomach	stomach
42	chr3:69110800-69119800	Weak transcription	Ovary	ovary
43	chr3:69110800-69127000	Weak transcription	Pancreas	Pancrea
44	chr3:69110800-69127600	Weak transcription	Brain Substantia Nigra	brain
45	chr3:69110800-69127800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr3:69110800-69128600	Weak transcription	Esophagus	oesophagus
47	chr3:69110800-69128800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:69110800-69128800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:69111000-69116800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:69111000-69118400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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