Variant report

Variant	rs7853612
Chromosome Location	chr9:116168868-116168869
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:116167715-116169611	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr9:116168607-116169100	GM12892	blood:	n/a	n/a
3	POLR2A	chr9:116168415-116169692	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr9:116168038-116171196	K562	blood:	n/a	n/a
5	POLR2A	chr9:116168857-116168894	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr9:116168414-116169117	GM12878	blood:	n/a	n/a
7	POLR2A	chr9:116167689-116169524	HepG2	liver:	n/a	n/a
8	POLR2A	chr9:116168679-116168962	MCF-7	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:116065172..116068096-chr9:116167897..116170819,2	MCF-7	breast:
2	chr9:116116941..116119780-chr9:116168101..116172088,3	MCF-7	breast:
3	chr9:116036482..116037335-chr9:116168680..116169652,2	MCF-7	breast:
4	chr9:116129674..116142040-chr9:116159218..116175468,34	MCF-7	breast:

No data

Variant related genes	Relation type
C9orf43	TF binding region
ENSG00000119431	Chromatin interaction
ENSG00000165188	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12346476	1.00[EUR][1000 genomes]
rs60969910	1.00[EUR][1000 genomes]
rs62619247	1.00[AMR][1000 genomes]
rs6478021	1.00[EUR][1000 genomes]
rs7023224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7027261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7032245	1.00[EUR][1000 genomes]
rs7032414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7033489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7038258	1.00[EUR][1000 genomes]
rs7042609	1.00[EUR][1000 genomes]
rs73538901	1.00[EUR][1000 genomes]
rs7851265	1.00[EUR][1000 genomes]
rs7856713	1.00[EUR][1000 genomes]
rs7864169	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7865642	1.00[EUR][1000 genomes]
rs7866866	1.00[EUR][1000 genomes]
rs7867017	1.00[EUR][1000 genomes]
rs7870008	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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

No data

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	chr9:116164200-116169400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr9:116164200-116169400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:116164200-116169400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr9:116164200-116169400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr9:116164200-116169400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr9:116164200-116169400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr9:116164200-116169400	Weak transcription	Brain Germinal Matrix	brain
26	chr9:116164200-116169400	Weak transcription	Right Ventricle	heart
27	chr9:116164200-116169400	Weak transcription	HSMM	muscle
28	chr9:116164200-116169400	Weak transcription	NHDF-Ad	bronchial
29	chr9:116164200-116169800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:116164200-116169800	Weak transcription	Aorta	Aorta
31	chr9:116164200-116169800	Weak transcription	A549	lung
32	chr9:116164200-116170000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:116164200-116170000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:116164200-116170000	Weak transcription	NHLF	lung
35	chr9:116164200-116170200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr9:116164200-116170400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr9:116164200-116170800	Weak transcription	Fetal Brain Male	brain
38	chr9:116164200-116171200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr9:116164200-116171800	Weak transcription	Right Atrium	heart
40	chr9:116164200-116172000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr9:116164400-116169000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr9:116164400-116169000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr9:116164400-116169200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr9:116164400-116169200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr9:116164400-116169200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr9:116164400-116169200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr9:116164400-116169200	Weak transcription	Brain Hippocampus Middle	brain
48	chr9:116164400-116169200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr9:116164400-116169400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr9:116164400-116169400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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