Variant report

Variant	rs258232
Chromosome Location	chr5:14790655-14790656
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr5:14790231-14790766	HL-60	blood:	n/a	chr5:14790493-14790506 chr5:14790496-14790505

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14789541..14791953-chr5:14870274..14872270,2	MCF-7	breast:

Variant related genes	Relation type
ANKH	TF binding region
ENSG00000154122	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1620976	0.85[ASN][1000 genomes]
rs1679138	0.87[ASN][1000 genomes]
rs174018	0.88[ASN][1000 genomes]
rs2448493	0.94[ASN][1000 genomes]
rs2453320	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs258220	0.93[ASN][1000 genomes]
rs25946	0.89[ASN][1000 genomes]
rs26304	0.86[ASN][1000 genomes]
rs26305	0.87[ASN][1000 genomes]
rs26306	0.87[ASN][1000 genomes]
rs27353	0.85[ASN][1000 genomes]
rs30613	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs30614	0.85[ASN][1000 genomes]
rs31907	0.93[ASN][1000 genomes]
rs31910	0.92[ASN][1000 genomes]
rs31911	0.92[ASN][1000 genomes]
rs31917	0.85[ASN][1000 genomes]
rs31931	0.88[ASN][1000 genomes]
rs31987	0.96[ASN][1000 genomes]
rs31988	0.95[ASN][1000 genomes]
rs31989	0.95[ASN][1000 genomes]
rs31990	0.92[ASN][1000 genomes]
rs379016	0.85[ASN][1000 genomes]
rs39917	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40402	0.85[ASN][1000 genomes]
rs412056	0.94[ASN][1000 genomes]
rs42274	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs43178	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs826351	0.87[ASN][1000 genomes]
rs826355	0.86[ASN][1000 genomes]
rs826356	0.85[ASN][1000 genomes]
rs826358	0.85[ASN][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	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv948447	chr5:14771247-14852610	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats 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 miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14729200-14791000	Weak transcription	Small Intestine	intestine
2	chr5:14753600-14801600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:14767400-14809800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:14776800-14809400	Weak transcription	HMEC	breast
5	chr5:14777000-14794200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:14777200-14806200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr5:14777200-14810400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:14777200-14811400	Weak transcription	Colonic Mucosa	Colon
9	chr5:14778200-14805800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:14778200-14809400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:14778200-14817200	Weak transcription	Fetal Brain Female	brain
12	chr5:14780000-14794600	Weak transcription	Fetal Heart	heart
13	chr5:14781400-14796000	Weak transcription	Hela-S3	cervix
14	chr5:14781600-14794200	Weak transcription	Thymus	Thymus
15	chr5:14782200-14805800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:14782600-14791000	Weak transcription	Aorta	Aorta
17	chr5:14784600-14793400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:14784600-14793400	Weak transcription	Lung	lung
19	chr5:14784600-14793600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:14784800-14797400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:14784800-14806600	Weak transcription	Adipose Nuclei	Adipose
22	chr5:14785000-14793400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:14785200-14793400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:14785200-14794000	Weak transcription	Gastric	stomach
25	chr5:14785600-14793400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr5:14785800-14809600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:14787000-14794200	Weak transcription	Brain Anterior Caudate	brain
28	chr5:14788200-14793400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr5:14788200-14793600	Weak transcription	Brain Hippocampus Middle	brain
30	chr5:14788400-14790800	Weak transcription	Left Ventricle	heart
31	chr5:14788400-14792200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:14788400-14809600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr5:14788600-14791200	Weak transcription	Right Atrium	heart
34	chr5:14788600-14792000	Weak transcription	Brain Substantia Nigra	brain
35	chr5:14788600-14792000	Weak transcription	Right Ventricle	heart
36	chr5:14788600-14793400	Weak transcription	Brain Angular Gyrus	brain
37	chr5:14788600-14793400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr5:14788600-14809600	Weak transcription	Psoas Muscle	Psoas
39	chr5:14788800-14793600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:14788800-14802000	Weak transcription	Spleen	Spleen
41	chr5:14788800-14809600	Weak transcription	Liver	Liver
42	chr5:14789000-14793400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr5:14789400-14792000	Enhancers	Primary T cells from cord blood	blood
44	chr5:14789400-14792200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr5:14789800-14790800	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr5:14789800-14791200	Enhancers	Fetal Intestine Small	intestine
47	chr5:14789800-14791600	Enhancers	Fetal Intestine Large	intestine
48	chr5:14789800-14792200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr5:14789800-14792800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr5:14790000-14791000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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