Variant report

Variant	rs34598718
Chromosome Location	chr3:146253672-146253673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:146245382..146249214-chr3:146253354..146257434,4	K562	blood:
2	chr3:146251866..146257697-chr3:146260468..146262994,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188313	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1061307	0.83[ASN][1000 genomes]
rs13080178	0.85[ASN][1000 genomes]
rs13099587	0.85[ASN][1000 genomes]
rs2120382	0.85[AFR][1000 genomes]
rs34009190	0.82[ASN][1000 genomes]
rs35766154	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3773521	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60601385	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66639703	0.97[ASN][1000 genomes]
rs6799809	0.85[ASN][1000 genomes]
rs7616011	0.85[AFR][1000 genomes]
rs7625626	0.85[ASN][1000 genomes]
rs7625713	0.85[ASN][1000 genomes]
rs7647634	0.85[ASN][1000 genomes]
rs9815834	0.97[ASN][1000 genomes]
rs9850802	0.85[ASN][1000 genomes]
rs9880682	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9883058	0.85[ASN][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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146224800-146254400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr3:146225400-146255000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:146225400-146256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:146225400-146257000	Weak transcription	Right Ventricle	heart
5	chr3:146225400-146260800	Weak transcription	NH-A	brain
6	chr3:146225600-146258600	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:146229000-146259600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr3:146229800-146257000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:146231600-146254400	Weak transcription	Brain Anterior Caudate	brain
10	chr3:146231600-146254400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:146231600-146257200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr3:146231600-146258600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr3:146231600-146259000	Weak transcription	Brain Angular Gyrus	brain
14	chr3:146231600-146260800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr3:146231800-146254000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:146231800-146254400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:146232000-146257400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr3:146232000-146259600	Weak transcription	NHDF-Ad	bronchial
19	chr3:146232800-146254400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr3:146232800-146256000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:146233000-146255200	Weak transcription	Esophagus	oesophagus
22	chr3:146233000-146259800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:146233000-146261400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr3:146233600-146259200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:146234400-146258000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:146236200-146254400	Weak transcription	Gastric	stomach
27	chr3:146236200-146254600	Weak transcription	Spleen	Spleen
28	chr3:146237000-146254400	Weak transcription	Brain Substantia Nigra	brain
29	chr3:146237400-146254400	Weak transcription	Stomach Mucosa	stomach
30	chr3:146240000-146254600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr3:146240400-146257200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:146240800-146254400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:146241400-146254400	Weak transcription	Small Intestine	intestine
34	chr3:146241800-146255000	Weak transcription	Lung	lung
35	chr3:146241800-146258600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr3:146244800-146254600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:146244800-146258200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr3:146246600-146257200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr3:146246800-146254600	Weak transcription	HepG2	liver
40	chr3:146247200-146254400	Weak transcription	Colon Smooth Muscle	Colon
41	chr3:146247200-146254400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr3:146247200-146260800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr3:146247400-146254400	Weak transcription	Ovary	ovary
44	chr3:146247800-146254400	Weak transcription	Fetal Stomach	stomach
45	chr3:146248800-146260800	Weak transcription	HSMM	muscle
46	chr3:146249000-146254600	Weak transcription	K562	blood
47	chr3:146249000-146259600	Weak transcription	Aorta	Aorta
48	chr3:146249200-146254400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:146249200-146254400	Weak transcription	Fetal Intestine Small	intestine
50	chr3:146249200-146254400	Weak transcription	Right Atrium	heart

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