Variant report

Variant	rs2231254
Chromosome Location	chr3:160804868-160804869
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160803867..160805630-chr3:160813768..160816100,2	K562	blood:
2	chr3:160803327..160805686-chr3:160817194..160819333,4	MCF-7	breast:
3	chr3:160803828..160805818-chr3:160806388..160808521,2	MCF-7	breast:
4	chr3:160800516..160803388-chr3:160803581..160805402,2	MCF-7	breast:
5	chr3:160803637..160806795-chr3:160818283..160820569,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169255	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12629152	1.00[CEU][hapmap]
rs12629929	1.00[CEU][hapmap]
rs2231257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279108	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34385057	0.82[AFR][1000 genomes]
rs34445748	0.97[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34893620	0.90[EUR][1000 genomes]
rs35614154	0.94[EUR][1000 genomes]
rs35630423	0.82[AFR][1000 genomes]
rs35667982	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35824993	0.82[AFR][1000 genomes]
rs35985783	0.82[AFR][1000 genomes]
rs36011360	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36046993	0.82[AFR][1000 genomes]
rs36051722	1.00[EUR][1000 genomes]
rs36082266	0.82[AFR][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	nsv931072	chr3:160669567-161159779	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160780800-160821400	Weak transcription	Fetal Brain Male	brain
2	chr3:160781800-160822000	Weak transcription	Thymus	Thymus
3	chr3:160787000-160822000	Weak transcription	Primary T cells from cord blood	blood
4	chr3:160787200-160818800	Weak transcription	Brain Germinal Matrix	brain
5	chr3:160788600-160807600	Weak transcription	Pancreas	Pancrea
6	chr3:160789600-160818800	Weak transcription	Esophagus	oesophagus
7	chr3:160796000-160817400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:160796200-160821800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:160797000-160822000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:160797600-160817200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:160798600-160821800	Weak transcription	Brain Angular Gyrus	brain
12	chr3:160799800-160821800	Weak transcription	NHLF	lung
13	chr3:160799800-160822000	Weak transcription	HMEC	breast
14	chr3:160800200-160808000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:160800200-160818200	Weak transcription	Fetal Intestine Small	intestine
16	chr3:160800200-160820000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:160800400-160805400	Weak transcription	Right Ventricle	heart
18	chr3:160800400-160813400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:160800400-160817200	Weak transcription	Brain Hippocampus Middle	brain
20	chr3:160800400-160818800	Weak transcription	Gastric	stomach
21	chr3:160800400-160822200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:160800400-160822400	Weak transcription	Spleen	Spleen
23	chr3:160800600-160807800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:160801000-160821800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr3:160801200-160806200	Weak transcription	NH-A	brain
26	chr3:160801200-160822000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr3:160801600-160816600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:160801600-160818800	Weak transcription	Placenta	Placenta
29	chr3:160801600-160821800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr3:160802200-160808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:160802600-160805400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:160802600-160821400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr3:160802600-160822000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:160802600-160822400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:160802800-160822000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:160803000-160805000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:160803000-160807600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:160803200-160807200	Strong transcription	Primary hematopoietic stem cells	blood
39	chr3:160803200-160808000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:160803400-160806600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr3:160803400-160807000	Strong transcription	Fetal Muscle Leg	muscle
42	chr3:160803400-160807200	Strong transcription	Fetal Lung	lung
43	chr3:160803400-160807800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr3:160803400-160819200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:160803400-160822000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:160803800-160805400	Weak transcription	Osteobl	bone
47	chr3:160803800-160808000	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr3:160803800-160822000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:160804400-160805200	Weak transcription	Fetal Heart	heart
50	chr3:160804400-160805600	Weak transcription	Fetal Kidney	kidney

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