Variant report

Variant	rs60243412
Chromosome Location	chr7:150832923-150832924
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	chr7:150831557-150834722	K562	blood:	n/a	n/a
2	POLR2A	chr7:150832621-150833037	K562	blood:	n/a	n/a
3	POLR2A	chr7:150832789-150833258	K562	blood:	n/a	n/a
4	POLR2A	chr7:150832755-150833247	K562	blood:	n/a	n/a

Variant related genes	Relation type
AGAP3	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1972754	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2288650	0.87[ASN][1000 genomes]
rs2303946	0.96[ASN][1000 genomes]
rs3815979	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4725997	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4725998	0.87[AMR][1000 genomes]
rs57324149	0.97[ASN][1000 genomes]
rs6970983	0.87[ASN][1000 genomes]
rs6979622	0.99[ASN][1000 genomes]
rs72617359	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
4	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
5	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
6	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
9	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
10	nsv609034	chr7:150830015-150893629	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr7:150812600-150839800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:150813000-150840400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:150813000-150843800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:150814000-150842600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:150814200-150839800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:150814800-150839800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:150815600-150833600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr7:150815600-150843400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:150816200-150844000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:150820400-150842400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:150821600-150833600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:150823200-150839600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:150823400-150841800	Strong transcription	Lung	lung
14	chr7:150823600-150841400	Genic enhancers	Fetal Muscle Leg	muscle
15	chr7:150823600-150842400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:150823800-150835400	Strong transcription	NHLF	lung
17	chr7:150823800-150839800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:150823800-150842800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:150824000-150834000	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr7:150824000-150834200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr7:150824000-150834800	Strong transcription	NHEK	skin
22	chr7:150824000-150839000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:150824000-150842600	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:150824000-150842600	Strong transcription	Liver	Liver
25	chr7:150824000-150843600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:150824200-150842800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:150824400-150833600	Strong transcription	Gastric	stomach
28	chr7:150824400-150839200	Strong transcription	Adipose Nuclei	Adipose
29	chr7:150824600-150833800	Strong transcription	K562	blood
30	chr7:150824600-150834200	Strong transcription	HepG2	liver
31	chr7:150824600-150834400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:150824600-150834400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:150824600-150835000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:150824600-150835000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:150824600-150835600	Strong transcription	Stomach Smooth Muscle	stomach
36	chr7:150824600-150835800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:150824600-150839400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:150824600-150841800	Strong transcription	Esophagus	oesophagus
39	chr7:150824800-150833800	Strong transcription	Fetal Brain Female	brain
40	chr7:150824800-150834000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr7:150824800-150842400	Strong transcription	Ovary	ovary
42	chr7:150825000-150839600	Strong transcription	Pancreas	Pancrea
43	chr7:150825200-150833800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:150825200-150834600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:150825400-150842600	Weak transcription	Thymus	Thymus
46	chr7:150825600-150833000	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr7:150825600-150834000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:150825600-150834200	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr7:150825600-150834800	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr7:150825600-150839400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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