Variant report

Variant	rs9869495
Chromosome Location	chr3:150443248-150443249
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:150443180-150443330	K562	blood:	n/a	chr3:150443287-150443294
2	RAD21	chr3:150443235-150443678	ECC-1	luminal epithelium:	n/a	chr3:150443535-150443542
3	ZNF384	chr3:150442926-150443258	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150442966..150446319-chr3:150451835..150458890,10	K562	blood:
2	chr3:150248363..150251305-chr3:150440477..150443457,2	K562	blood:
3	chr3:150433681..150449199-chr3:150473254..150487048,35	MCF-7	breast:
4	chr3:150442966..150445633-chr3:150456392..150458239,2	K562	blood:
5	chr3:150441775..150449355-chr3:150477239..150485487,18	K562	blood:
6	chr3:150419945..150423964-chr3:150439302..150443369,4	MCF-7	breast:
7	chr3:150437541..150441033-chr3:150442192..150446302,5	K562	blood:
8	chr3:150437792..150441033-chr3:150441537..150446048,5	K562	blood:
9	chr3:150442212..150446114-chr3:150585527..150588995,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000244668	TF binding region
ENSG00000244668	Chromatin interaction
ENSG00000181788	Chromatin interaction
ENSG00000163645	Chromatin interaction
ENSG00000240137	Chromatin interaction
ENSG00000244265	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12494272	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12630292	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12634699	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12638096	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1897489	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1897491	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28460384	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28790675	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4558804	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55838848	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6766333	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6784407	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6807493	0.83[ASN][1000 genomes]
rs73869279	0.83[ASN][1000 genomes]
rs7641475	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7648424	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7650706	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9682958	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9814796	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9848451	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9858987	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9876621	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150423200-150451600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:150429200-150444600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:150429200-150457600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:150430000-150455000	Weak transcription	Primary T cells from cord blood	blood
5	chr3:150430800-150454000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:150439400-150446800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:150439600-150444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:150439600-150444800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:150439800-150444600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:150439800-150444800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:150439800-150444800	Weak transcription	Adipose Nuclei	Adipose
12	chr3:150439800-150444800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr3:150439800-150444800	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:150439800-150445600	Weak transcription	Gastric	stomach
15	chr3:150439800-150457600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr3:150439800-150459000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr3:150441000-150445000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr3:150441400-150446400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:150441800-150445800	Weak transcription	Right Atrium	heart
20	chr3:150442200-150455200	Weak transcription	Thymus	Thymus
21	chr3:150442400-150448000	Enhancers	HepG2	liver
22	chr3:150442600-150446200	Enhancers	Placenta	Placenta
23	chr3:150443000-150443400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr3:150443000-150443600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:150443000-150443600	Enhancers	Colonic Mucosa	Colon
26	chr3:150443000-150443600	Enhancers	Duodenum Mucosa	Duodenum
27	chr3:150443000-150443600	Flanking Active TSS	NHEK	skin
28	chr3:150443000-150443800	Enhancers	Fetal Intestine Large	intestine
29	chr3:150443000-150444000	Enhancers	Hela-S3	cervix
30	chr3:150443000-150445600	Enhancers	K562	blood
31	chr3:150443200-150443400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr3:150443200-150443600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr3:150443200-150443600	Enhancers	HMEC	breast
34	chr3:150443200-150444000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:150443200-150444000	Enhancers	Fetal Intestine Small	intestine
36	chr3:150443200-150444000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr3:150443200-150444200	Enhancers	Stomach Mucosa	stomach
38	chr3:150443200-150445600	Enhancers	Esophagus	oesophagus
39	chr3:150443200-150457800	Weak transcription	Fetal Muscle Trunk	muscle

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