Variant report

Variant	rs343314
Chromosome Location	chr3:146240439-146240440
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	chr3:146238992-146243371	K562	blood:	n/a	n/a
2	POLR2A	chr3:146238221-146242021	K562	blood:	n/a	n/a
3	ZBTB7A	chr3:146240396-146240552	K562	blood:	n/a	n/a
4	FOXA2	chr3:146240106-146240479	A549	lung:	n/a	n/a
5	POLR2A	chr3:146240137-146241220	H1-hESC	embryonic stem cell:	n/a	n/a
6	SPI1	chr3:146240399-146240597	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:146231973..146233621-chr3:146239726..146242510,2	K562	blood:

Variant related genes	Relation type
PLSCR1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs173150	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs186910	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs343316	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs343317	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs343318	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs343320	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs454645	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71302408	0.92[AMR][1000 genomes];0.92[EUR][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	esv3448053	chr3:146186791-146262066	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3523751	chr3:146186838-146261806	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv3523753	chr3:146186838-146261806	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2496437	chr3:146186902-146262961	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146224200-146246400	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:146224600-146241000	Weak transcription	Fetal Kidney	kidney
3	chr3:146224800-146254400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:146225000-146240800	Weak transcription	Small Intestine	intestine
5	chr3:146225400-146240600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:146225400-146255000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:146225400-146256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:146225400-146257000	Weak transcription	Right Ventricle	heart
9	chr3:146225400-146260800	Weak transcription	NH-A	brain
10	chr3:146225600-146252200	Weak transcription	Psoas Muscle	Psoas
11	chr3:146225600-146258600	Weak transcription	Brain Hippocampus Middle	brain
12	chr3:146226000-146241400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:146226200-146240800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:146226200-146245800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:146228000-146248200	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr3:146229000-146253200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr3:146229000-146259600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr3:146229400-146252200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr3:146229800-146257000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:146230400-146248600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr3:146230600-146241400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr3:146231400-146242800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:146231600-146250800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:146231600-146254400	Weak transcription	Brain Anterior Caudate	brain
25	chr3:146231600-146254400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:146231600-146257200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr3:146231600-146258600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr3:146231600-146259000	Weak transcription	Brain Angular Gyrus	brain
29	chr3:146231600-146260800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr3:146231800-146240800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr3:146231800-146242600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:146231800-146242800	Weak transcription	Osteobl	bone
33	chr3:146231800-146254000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:146231800-146254400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr3:146232000-146257400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr3:146232000-146259600	Weak transcription	NHDF-Ad	bronchial
37	chr3:146232600-146248400	Weak transcription	HMEC	breast
38	chr3:146232800-146241000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr3:146232800-146248600	Weak transcription	Aorta	Aorta
40	chr3:146232800-146250200	Weak transcription	Pancreas	Pancrea
41	chr3:146232800-146254400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr3:146232800-146256000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:146233000-146241000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:146233000-146241000	Weak transcription	Thymus	Thymus
45	chr3:146233000-146241400	Weak transcription	Lung	lung
46	chr3:146233000-146244600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:146233000-146246400	Weak transcription	Left Ventricle	heart
48	chr3:146233000-146248400	Weak transcription	Colonic Mucosa	Colon
49	chr3:146233000-146248600	Weak transcription	NHEK	skin
50	chr3:146233000-146248800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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