Variant report

Variant	rs62328369
Chromosome Location	chr4:120151494-120151495
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:120136237..120140737-chr4:120147652..120152174,4	MCF-7	breast:
2	chr4:120146321..120148170-chr4:120150599..120152803,2	K562	blood:
3	chr4:120151295..120153749-chr4:120154352..120157062,2	K562	blood:
4	chr4:120132760..120135331-chr4:120151065..120152751,2	MCF-7	breast:
5	chr4:120132067..120136254-chr4:120151434..120157051,7	K562	blood:
6	chr4:120132397..120137812-chr4:120151434..120157051,7	K562	blood:

Variant related genes	Relation type
ENSG00000145390	Chromatin interaction
ENSG00000178636	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12642637	0.81[ASN][1000 genomes]
rs12644226	0.82[ASN][1000 genomes]
rs12644283	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12645079	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12645965	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12649811	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12650267	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17049968	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17642800	0.85[AMR][1000 genomes]
rs2102541	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35372126	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4833614	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4834761	0.83[ASN][1000 genomes]
rs4834762	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55732167	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55890361	0.85[ASN][1000 genomes]
rs56034803	0.83[ASN][1000 genomes]
rs56072232	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56083532	0.85[ASN][1000 genomes]
rs57070054	0.81[ASN][1000 genomes]
rs62326301	0.81[ASN][1000 genomes]
rs62326319	0.81[ASN][1000 genomes]
rs62326320	0.81[ASN][1000 genomes]
rs62326341	0.83[ASN][1000 genomes]
rs62326342	0.83[ASN][1000 genomes]
rs62326344	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62326345	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62326346	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62326347	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62326348	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62326349	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62326352	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62328371	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62328372	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62328373	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62328374	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62328376	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62328377	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62328379	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62328398	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62328407	0.83[AMR][1000 genomes]
rs72910519	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	esv2763386	chr4:120143861-120186968	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv966480	chr4:120144708-120160847	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62328369	FABP2	cis	Whole Blood	GTEx
rs62328369	FABP2	cis	Heart Left Ventricle	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120134800-120170000	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:120135000-120154800	Weak transcription	Primary B cells from cord blood	blood
3	chr4:120135000-120170400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:120135000-120195800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:120135200-120155000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:120135200-120155000	Weak transcription	Small Intestine	intestine
7	chr4:120135200-120163600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:120135200-120176200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:120135200-120176200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr4:120135400-120159000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:120135400-120194600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:120135600-120155000	Weak transcription	K562	blood
13	chr4:120135600-120173800	Weak transcription	Brain Anterior Caudate	brain
14	chr4:120136200-120154400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr4:120136200-120219200	Weak transcription	Brain Angular Gyrus	brain
16	chr4:120136400-120151600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr4:120136400-120155000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:120136400-120155000	Weak transcription	Stomach Mucosa	stomach
19	chr4:120136400-120156400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr4:120137400-120155000	Weak transcription	Right Atrium	heart
21	chr4:120137600-120154600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:120138800-120155000	Weak transcription	Fetal Thymus	thymus
23	chr4:120139400-120151600	Weak transcription	Psoas Muscle	Psoas
24	chr4:120139400-120165800	Weak transcription	Fetal Kidney	kidney
25	chr4:120139600-120151600	Weak transcription	Aorta	Aorta
26	chr4:120139600-120153600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:120140000-120155000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:120140200-120154800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:120140200-120154800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr4:120140600-120151600	Weak transcription	Right Ventricle	heart
31	chr4:120140600-120167400	Weak transcription	Colonic Mucosa	Colon
32	chr4:120140800-120152800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr4:120140800-120154600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr4:120140800-120154800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:120140800-120158800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr4:120141000-120153800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr4:120141000-120154600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr4:120141000-120154600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr4:120141000-120154800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr4:120141000-120158800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr4:120141000-120192400	Weak transcription	Hela-S3	cervix
42	chr4:120141400-120151800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:120141400-120151800	Weak transcription	HUVEC	blood vessel
44	chr4:120142400-120155000	Weak transcription	Ovary	ovary
45	chr4:120143000-120151800	Weak transcription	Lung	lung
46	chr4:120143000-120155000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr4:120143000-120155000	Weak transcription	HSMMtube	muscle
48	chr4:120143000-120156400	Weak transcription	Fetal Stomach	stomach
49	chr4:120143000-120156600	Weak transcription	Fetal Intestine Small	intestine
50	chr4:120143000-120167200	Weak transcription	Placenta	Placenta

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