Variant report

Variant	rs818692
Chromosome Location	chr9:116165978-116165979
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	CEBPB	chr9:116165964-116166297	IMR90	lung:	n/a	chr9:116166126-116166137
2	CEBPB	chr9:116165948-116166326	K562	blood:	n/a	chr9:116166126-116166137
3	CEBPB	chr9:116165937-116166302	K562	blood:	n/a	chr9:116166126-116166137
4	CEBPB	chr9:116165954-116166293	A549	lung:	n/a	chr9:116166126-116166137
5	MYC	chr9:116165977-116166239	NB4	blood:	n/a	n/a
6	REST	chr9:116165827-116166351	HL-60	blood:	n/a	n/a
7	MAX	chr9:116165966-116166252	NB4	blood:	n/a	n/a
8	SPI1	chr9:116165925-116166297	HL-60	blood:	n/a	n/a
9	CEBPB	chr9:116165974-116166295	HepG2	liver:	n/a	chr9:116166126-116166137
10	CEBPB	chr9:116165947-116166319	Hela-S3	cervix:	n/a	chr9:116166126-116166137

No.	Distal block	Cell Line	Cell type
1	chr9:116137664..116140470-chr9:116160302..116166802,9	MCF-7	breast:
2	chr9:116148030..116156107-chr9:116161914..116166950,9	MCF-7	breast:
3	chr9:116163853..116166452-chr9:116179646..116182373,3	K562	blood:
4	chr9:116162231..116166322-chr9:116170436..116174778,10	MCF-7	breast:
5	chr9:116109902..116113383-chr9:116162345..116166968,8	MCF-7	breast:
6	chr9:116068116..116070060-chr9:116164564..116167189,2	MCF-7	breast:
7	chr9:116110568..116112673-chr9:116163738..116167163,3	MCF-7	breast:
8	chr9:116164000..116166452-chr9:116179646..116182373,2	K562	blood:
9	chr9:116129674..116142040-chr9:116159218..116175468,34	MCF-7	breast:

Variant related genes	Relation type
ALAD	TF binding region
ENSG00000119431	Chromatin interaction
ENSG00000157653	Chromatin interaction
ENSG00000148218	Chromatin interaction
ENSG00000119411	Chromatin interaction
ENSG00000148229	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs14419	0.92[ASN][1000 genomes]
rs818693	0.88[AFR][1000 genomes]
rs818696	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs818697	0.84[AFR][1000 genomes];0.81[AMR][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	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs818692	TBC1D30	trans	lymphoblastoid	seeQTL
rs818692	ALAD	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116163600-116169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:116163600-116169800	Weak transcription	Lung	lung
3	chr9:116163600-116169800	Weak transcription	Spleen	Spleen
4	chr9:116163600-116170000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:116163600-116170200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:116163600-116172200	Weak transcription	Small Intestine	intestine
7	chr9:116163800-116169400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr9:116163800-116169400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:116163800-116169800	Weak transcription	Gastric	stomach
10	chr9:116163800-116170000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:116164000-116169400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr9:116164000-116169600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:116164000-116169800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr9:116164000-116170200	Weak transcription	Ovary	ovary
15	chr9:116164000-116171000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:116164000-116171400	Weak transcription	Pancreas	Pancrea
17	chr9:116164000-116171600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:116164000-116171600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:116164200-116166600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr9:116164200-116169400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr9:116164200-116169400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:116164200-116169400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:116164200-116169400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr9:116164200-116169400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr9:116164200-116169400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr9:116164200-116169400	Weak transcription	Brain Germinal Matrix	brain
27	chr9:116164200-116169400	Weak transcription	Right Ventricle	heart
28	chr9:116164200-116169400	Weak transcription	HSMM	muscle
29	chr9:116164200-116169400	Weak transcription	NHDF-Ad	bronchial
30	chr9:116164200-116169800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:116164200-116169800	Weak transcription	Aorta	Aorta
32	chr9:116164200-116169800	Weak transcription	A549	lung
33	chr9:116164200-116170000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:116164200-116170000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:116164200-116170000	Weak transcription	NHLF	lung
36	chr9:116164200-116170200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr9:116164200-116170400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:116164200-116170800	Weak transcription	Fetal Brain Male	brain
39	chr9:116164200-116171200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr9:116164200-116171800	Weak transcription	Right Atrium	heart
41	chr9:116164200-116172000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr9:116164400-116166000	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr9:116164400-116166200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr9:116164400-116167800	Weak transcription	Fetal Stomach	stomach
45	chr9:116164400-116168600	Weak transcription	Fetal Heart	heart
46	chr9:116164400-116169000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:116164400-116169000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr9:116164400-116169200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr9:116164400-116169200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr9:116164400-116169200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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