Variant report

Variant	rs59251956
Chromosome Location	chr3:141238992-141238993
allele	C/T
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	CTCF	chr3:141238932-141239001	GM10248	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141237293..141240877-chr3:141241422..141245605,3	K562	blood:
2	chr3:141203748..141207379-chr3:141236943..141239708,3	K562	blood:

Variant related genes	Relation type
RASA2-IT1	TF binding region
ENSG00000155903	Chromatin interaction
ENSG00000250170	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs56233244	1.00[AMR][1000 genomes]
rs56340836	1.00[AMR][1000 genomes]
rs58287573	1.00[AMR][1000 genomes]
rs58701841	1.00[AMR][1000 genomes]
rs58990624	1.00[AMR][1000 genomes]
rs59719153	1.00[AMR][1000 genomes]
rs60338048	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73869616	1.00[AMR][1000 genomes]
rs73869623	1.00[AMR][1000 genomes]
rs73869632	1.00[AMR][1000 genomes]
rs73869637	1.00[AMR][1000 genomes]
rs73869640	1.00[AMR][1000 genomes]
rs73869641	1.00[AMR][1000 genomes]
rs73869643	1.00[AMR][1000 genomes]
rs73869652	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73869655	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73869657	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73869665	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73869672	1.00[AMR][1000 genomes]
rs73869674	1.00[AMR][1000 genomes]
rs73871838	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73871839	1.00[AMR][1000 genomes]
rs73871845	1.00[AMR][1000 genomes]
rs73871846	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9858760	1.00[AMR][1000 genomes]

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	nsv1006237	chr3:141227525-141300722	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1014365	chr3:141235379-141282615	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141207000-141255000	Weak transcription	Aorta	Aorta
2	chr3:141210400-141248000	Weak transcription	NHLF	lung
3	chr3:141216000-141239600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:141217800-141258400	Weak transcription	Psoas Muscle	Psoas
5	chr3:141226600-141254400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:141227400-141242800	Weak transcription	Ovary	ovary
7	chr3:141228400-141246600	Strong transcription	Dnd41	blood
8	chr3:141229400-141267400	Weak transcription	Fetal Heart	heart
9	chr3:141230000-141259800	Weak transcription	Small Intestine	intestine
10	chr3:141230400-141243000	Weak transcription	Spleen	Spleen
11	chr3:141231000-141243000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:141231200-141240200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr3:141231200-141240800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:141231200-141245000	Strong transcription	Fetal Thymus	thymus
15	chr3:141231600-141254400	Weak transcription	Fetal Kidney	kidney
16	chr3:141231600-141263600	Weak transcription	Fetal Brain Male	brain
17	chr3:141231800-141242600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:141232000-141241800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:141232200-141245600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr3:141232200-141254400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr3:141232400-141240000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr3:141232600-141239600	Strong transcription	Osteobl	bone
23	chr3:141232600-141244400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:141232800-141239600	Strong transcription	Primary T cells from cord blood	blood
25	chr3:141232800-141240000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:141234000-141254400	Weak transcription	Right Ventricle	heart
27	chr3:141235400-141239800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:141235800-141239200	Weak transcription	NHEK	skin
29	chr3:141235800-141240000	Strong transcription	NHDF-Ad	bronchial
30	chr3:141236200-141242800	Weak transcription	Hela-S3	cervix
31	chr3:141236200-141281600	Weak transcription	Colon Smooth Muscle	Colon
32	chr3:141236400-141239200	Weak transcription	NH-A	brain
33	chr3:141236400-141240400	Strong transcription	Primary B cells from cord blood	blood
34	chr3:141236400-141241000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr3:141236400-141241200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr3:141236400-141242800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:141236400-141243400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr3:141236400-141244200	Weak transcription	Pancreas	Pancrea
39	chr3:141236400-141245200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:141236400-141249000	Weak transcription	Right Atrium	heart
41	chr3:141236400-141254400	Weak transcription	Brain Angular Gyrus	brain
42	chr3:141236400-141254400	Weak transcription	Left Ventricle	heart
43	chr3:141236400-141276000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr3:141236400-141301000	Weak transcription	Brain Substantia Nigra	brain
45	chr3:141236400-141306600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:141236600-141239600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:141236600-141240000	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr3:141236600-141241000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:141236600-141241000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:141236600-141241000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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