Variant report

Variant	rs41401648
Chromosome Location	chr3:151155383-151155384
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	POLR2A	chr3:151155376-151155455	ProgFib	skin:	n/a	n/a
2	POLR2A	chr3:151155215-151156226	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:151154113..151155918-chr3:151159230..151162074,2	K562	blood:
2	chr3:151154108..151155613-chr3:151160574..151163493,2	K562	blood:

Variant related genes	Relation type
IGSF10	TF binding region
ENSG00000152580	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16863388	1.00[AFR][1000 genomes]
rs58424929	0.81[AFR][1000 genomes]
rs937118	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829757	chr3:151044880-151226442	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1000355	chr3:151108859-151243835	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv995048	chr3:151114074-151560019	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv877649	chr3:151147968-151236562	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:151129400-151162800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr3:151140200-151157000	Weak transcription	Dnd41	blood
3	chr3:151147200-151157800	Weak transcription	Aorta	Aorta
4	chr3:151148400-151161400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:151148800-151162400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:151150000-151156800	Weak transcription	Pancreas	Pancrea
7	chr3:151150400-151157200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:151150400-151158200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:151151200-151158400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:151152800-151155600	Enhancers	NHDF-Ad	bronchial
11	chr3:151153200-151156000	Weak transcription	HSMM	muscle
12	chr3:151153200-151157200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr3:151153200-151157600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:151153200-151158200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:151153400-151157400	Weak transcription	A549	lung
16	chr3:151153400-151162600	Weak transcription	Osteobl	bone
17	chr3:151153600-151158400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr3:151154600-151155800	Strong transcription	Ovary	ovary
19	chr3:151154600-151156000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:151154600-151156400	Strong transcription	Fetal Lung	lung
21	chr3:151154800-151156000	Strong transcription	Fetal Brain Male	brain
22	chr3:151155000-151156000	Weak transcription	Small Intestine	intestine
23	chr3:151155000-151157800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:151155000-151162800	Weak transcription	NHLF	lung
25	chr3:151155200-151157200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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