Variant report

Variant	rs4907230
Chromosome Location	chr2:96855241-96855242
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	MAZ	chr2:96855015-96855281	K562	blood:	n/a	n/a
2	MYC	chr2:96854969-96855261	K562	blood:	n/a	n/a

Variant related genes	Relation type
STARD7	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11693248	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2301707	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3821051	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58448550	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3435047	chr2:96836850-96890437	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv834305	chr2:96848898-97019476	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4907230	GPAT2	cis	Muscle Skeletal	GTEx
rs4907230	CIAO1	Cis_1M	lymphoblastoid	RTeQTL
rs4907230	ADRA2B	cis	Thyroid	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96842600-96861600	Weak transcription	Right Atrium	heart
2	chr2:96848000-96858800	Weak transcription	Fetal Brain Male	brain
3	chr2:96848600-96861400	Strong transcription	Thymus	Thymus
4	chr2:96848600-96861600	Strong transcription	Fetal Stomach	stomach
5	chr2:96849000-96860400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:96849200-96861400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:96849200-96861400	Strong transcription	Stomach Smooth Muscle	stomach
8	chr2:96849200-96861600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr2:96849400-96861000	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:96849400-96861200	Strong transcription	Brain Hippocampus Middle	brain
11	chr2:96849600-96861000	Strong transcription	Lung	lung
12	chr2:96849600-96861400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr2:96849600-96861400	Strong transcription	Fetal Thymus	thymus
14	chr2:96849600-96861600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:96849600-96861600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:96849600-96862000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:96849600-96872600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:96849800-96861000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:96849800-96861200	Strong transcription	Liver	Liver
20	chr2:96849800-96861200	Strong transcription	Brain Germinal Matrix	brain
21	chr2:96849800-96861400	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr2:96849800-96861400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr2:96849800-96861400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:96849800-96861400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:96849800-96861400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:96849800-96861400	Strong transcription	Fetal Brain Female	brain
27	chr2:96849800-96861600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:96849800-96861800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:96849800-96861800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:96849800-96862200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:96849800-96871000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:96850000-96855400	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr2:96850000-96860800	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr2:96850000-96861200	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:96850000-96861200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:96850000-96861200	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:96850000-96861200	Strong transcription	Brain Cingulate Gyrus	brain
38	chr2:96850000-96861200	Strong transcription	Brain Substantia Nigra	brain
39	chr2:96850000-96861400	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:96850000-96861400	Strong transcription	Primary T cells from cord blood	blood
41	chr2:96850000-96861400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:96850000-96861400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:96850000-96861400	Strong transcription	Rectal Smooth Muscle	rectum
44	chr2:96850000-96861400	Strong transcription	Dnd41	blood
45	chr2:96850000-96861600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:96850000-96861600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:96850000-96861600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:96850000-96861800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:96850000-96861800	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:96850000-96862200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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