Variant report

Variant	rs9380173
Chromosome Location	chr6:30309105-30309106
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr6:30309003-30309418	K562	blood:	n/a	n/a
2	ZNF143	chr6:30309099-30309309	K562	blood:	n/a	n/a
3	RCOR1	chr6:30309076-30309387	K562	blood:	n/a	n/a
4	RCOR1	chr6:30309066-30309138	K562	blood:	n/a	n/a
5	POLR2A	chr6:30309039-30309367	K562	blood:	n/a	n/a
6	MYC	chr6:30309057-30309340	K562	blood:	n/a	n/a
7	GATA2	chr6:30309069-30309433	K562	blood:	n/a	n/a
8	EP300	chr6:30309053-30309451	K562	blood:	n/a	chr6:30309282-30309292
9	TAL1	chr6:30309051-30309383	K562	blood:	n/a	n/a
10	NR2F2	chr6:30309055-30309429	K562	blood:	n/a	n/a
11	TEAD4	chr6:30308897-30309464	K562	blood:	n/a	n/a
12	ZNF384	chr6:30308907-30309324	K562	blood:	n/a	n/a
13	MYC	chr6:30309047-30309384	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30301782..30303711-chr6:30308127..30310894,2	MCF-7	breast:
2	chr6:30306322..30309908-chr6:30310414..30313439,9	MCF-7	breast:
3	chr6:30293058..30297784-chr6:30308514..30315279,24	MCF-7	breast:

No data

Variant related genes	Relation type
RPP21	TF binding region
ENSG00000248167	Chromatin interaction
ENSG00000270604	Chromatin interaction
ENSG00000204599	Chromatin interaction
ENSG00000231074	Chromatin interaction
ENSG00000241370	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12174823	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1579218	0.91[EUR][1000 genomes]
rs1579219	0.91[EUR][1000 genomes]
rs2187980	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2240058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285798	0.91[EUR][1000 genomes]
rs2394779	0.91[EUR][1000 genomes]
rs2894145	0.91[EUR][1000 genomes]
rs3778626	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5030611	0.84[EUR][1000 genomes]
rs56183729	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9295844	0.91[EUR][1000 genomes]
rs9357095	0.91[EUR][1000 genomes]
rs9366755	0.91[EUR][1000 genomes]
rs9368628	0.90[EUR][1000 genomes]
rs9368632	0.91[EUR][1000 genomes]
rs9368633	0.91[EUR][1000 genomes]
rs9391679	0.91[EUR][1000 genomes]
rs9391762	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9391806	0.91[EUR][1000 genomes]
rs9391807	0.91[EUR][1000 genomes]
rs9393999	0.91[EUR][1000 genomes]
rs9394000	0.91[EUR][1000 genomes]
rs9394002	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9405046	0.84[ASN][1000 genomes]
rs974962	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer 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	825 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9380173	HCG18	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30295400-30309400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:30295600-30312600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:30295600-30312600	Weak transcription	Right Atrium	heart
4	chr6:30295600-30313000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:30295800-30311000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:30295800-30312400	Weak transcription	Fetal Heart	heart
7	chr6:30295800-30312400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:30296200-30310400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:30296600-30310600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr6:30296800-30310000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:30296800-30310000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:30296800-30310200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:30296800-30310400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr6:30296800-30310600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:30296800-30310800	Strong transcription	Fetal Brain Female	brain
16	chr6:30296800-30311200	Strong transcription	Placenta	Placenta
17	chr6:30296800-30311400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:30296800-30311800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:30297000-30310000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:30297000-30310200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:30297000-30310200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr6:30297000-30310400	Strong transcription	Brain Cingulate Gyrus	brain
23	chr6:30297000-30310600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr6:30297000-30311000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:30297200-30310200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:30297200-30310200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:30297200-30310200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:30297200-30310200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr6:30297200-30310200	Strong transcription	NHEK	skin
30	chr6:30297200-30310400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:30297200-30310400	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr6:30297200-30310400	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr6:30297200-30310600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr6:30297200-30310600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr6:30297200-30310800	Strong transcription	Liver	Liver
36	chr6:30297200-30310800	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:30297200-30310800	Strong transcription	Stomach Smooth Muscle	stomach
38	chr6:30297200-30311000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:30297200-30311000	Strong transcription	Adipose Nuclei	Adipose
40	chr6:30297600-30309800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:30298200-30310800	Strong transcription	Primary B cells from cord blood	blood
42	chr6:30298400-30309400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr6:30298400-30310000	Strong transcription	Primary hematopoietic stem cells	blood
44	chr6:30298600-30312600	Weak transcription	Fetal Brain Male	brain
45	chr6:30298800-30311600	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr6:30299000-30309200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:30300800-30310000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:30301200-30310400	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr6:30301200-30310600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr6:30301200-30310800	Strong transcription	Skeletal Muscle Female	skeletal muscle

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