Variant report

Variant	rs7322777
Chromosome Location	chr13:76402406-76402407
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	MAFK	chr13:76402123-76402433	HepG2	liver:	n/a	chr13:76402265-76402285 chr13:76402264-76402279
2	GATA3	chr13:76402309-76402590	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76401876..76403467-chr13:76404663..76406392,2	K562	blood:

Variant related genes	Relation type
LMO7	TF binding region

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13378536	0.86[EUR][1000 genomes]
rs3783024	1.00[CHB][hapmap]
rs41287014	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41307595	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227994	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73227996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73229911	0.81[EUR][1000 genomes]
rs73229981	0.86[EUR][1000 genomes]
rs73230001	0.86[EUR][1000 genomes]
rs9318382	0.86[EUR][1000 genomes]
rs9318383	0.86[EUR][1000 genomes]
rs9565204	1.00[ASN][1000 genomes]
rs9573666	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573668	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9573669	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573670	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9593139	0.81[EUR][1000 genomes]
rs9600589	0.86[EUR][1000 genomes]
rs9600591	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats 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	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76370400-76415600	Weak transcription	Primary B cells from cord blood	blood
2	chr13:76373000-76414600	Weak transcription	HMEC	breast
3	chr13:76376800-76415400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr13:76377600-76415800	Weak transcription	Dnd41	blood
5	chr13:76377600-76416200	Weak transcription	A549	lung
6	chr13:76378200-76415800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr13:76378400-76415600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr13:76380600-76405600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:76387400-76403400	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr13:76387400-76404200	Strong transcription	HSMMtube	muscle
11	chr13:76387800-76415800	Weak transcription	Brain Germinal Matrix	brain
12	chr13:76387800-76427200	Weak transcription	Ovary	ovary
13	chr13:76388000-76415200	Weak transcription	Fetal Brain Female	brain
14	chr13:76388800-76415400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr13:76389400-76414800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:76390000-76402800	Weak transcription	Stomach Mucosa	stomach
17	chr13:76390400-76403600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:76390400-76405600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr13:76391000-76405600	Strong transcription	Liver	Liver
20	chr13:76391200-76418600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr13:76391200-76431600	Strong transcription	Hela-S3	cervix
22	chr13:76391400-76402600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:76391400-76402800	Strong transcription	NH-A	brain
24	chr13:76391600-76415200	Weak transcription	Brain Hippocampus Middle	brain
25	chr13:76392400-76403400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr13:76392400-76415600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr13:76393000-76416000	Weak transcription	Brain Angular Gyrus	brain
28	chr13:76393200-76405600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr13:76393200-76405600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr13:76393400-76415800	Weak transcription	Psoas Muscle	Psoas
31	chr13:76393600-76414400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr13:76393600-76416000	Weak transcription	Fetal Lung	lung
33	chr13:76393800-76405600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr13:76394200-76415400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr13:76394400-76435800	Weak transcription	Colon Smooth Muscle	Colon
36	chr13:76394800-76415800	Weak transcription	Adipose Nuclei	Adipose
37	chr13:76395600-76414400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr13:76396400-76432000	Weak transcription	Brain Substantia Nigra	brain
39	chr13:76396400-76436800	Weak transcription	Fetal Brain Male	brain
40	chr13:76396800-76415600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr13:76396800-76416200	Weak transcription	Fetal Kidney	kidney
42	chr13:76397200-76405400	Strong transcription	Fetal Intestine Large	intestine
43	chr13:76398000-76403600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr13:76398200-76404400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr13:76398400-76405000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr13:76398400-76415400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr13:76398400-76415600	Weak transcription	Brain Anterior Caudate	brain
48	chr13:76398400-76415600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr13:76398600-76414600	Weak transcription	Colonic Mucosa	Colon
50	chr13:76398600-76415200	Weak transcription	Fetal Muscle Trunk	muscle

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