Variant report

Variant	rs1805333
Chromosome Location	chr9:110068767-110068768
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr9:110068701-110068800	MCF-7	breast:	n/a	n/a
2	MYC	chr9:110068718-110068793	MCF-7	breast:	n/a	n/a
3	SP1	chr9:110068566-110068985	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr9:110068678-110068852	Gliobla	brain:	n/a	n/a
5	POLR2A	chr9:110068679-110068786	A549	lung:	n/a	n/a
6	MYC	chr9:110068698-110068769	MCF-7	breast:	n/a	n/a
7	CTCF	chr9:110068707-110068796	MCF-7	breast:	n/a	n/a
8	POLR2A	chr9:110068616-110068875	MCF-7	breast:	n/a	n/a
9	POLR2A	chr9:110068592-110068944	HepG2	liver:	n/a	n/a
10	MYC	chr9:110068702-110068828	MCF-7	breast:	n/a	n/a
11	POLR2A	chr9:110068653-110068823	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr9:110068748-110068771	ProgFib	skin:	n/a	n/a
13	POLR2A	chr9:110068645-110069031	MCF-7	breast:	n/a	n/a
14	POLR2A	chr9:110068679-110068868	MCF-7	breast:	n/a	n/a
15	CTCF	chr9:110068706-110068773	MCF-7	breast:	n/a	n/a
16	CTCF	chr9:110068658-110068892	T-47D	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:110044300..110048942-chr9:110067094..110074281,11	MCF-7	breast:
2	chr9:110044689..110046322-chr9:110067933..110070602,2	MCF-7	breast:
3	chr9:110066546..110068820-chr9:110070099..110072888,2	K562	blood:

No data

Variant related genes	Relation type
RAD23B	TF binding region
ENSG00000119318	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11573621	1.00[AMR][1000 genomes]
rs11573630	1.00[AMR][1000 genomes]
rs11573633	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11573647	1.00[AMR][1000 genomes]
rs11573653	1.00[AMR][1000 genomes]
rs11573666	1.00[AMR][1000 genomes]
rs11573667	1.00[AMR][1000 genomes]
rs11573672	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11573713	1.00[AMR][1000 genomes]
rs11573715	1.00[AMR][1000 genomes]
rs11573723	1.00[AMR][1000 genomes]
rs16912381	1.00[AMR][1000 genomes]
rs57935630	1.00[AMR][1000 genomes]
rs58248414	1.00[AMR][1000 genomes]
rs59489709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60718910	1.00[AMR][1000 genomes]
rs61015686	1.00[AMR][1000 genomes]
rs7024037	1.00[AMR][1000 genomes]
rs7036593	1.00[AMR][1000 genomes]
rs7040616	1.00[AMR][1000 genomes]
rs73515722	1.00[AMR][1000 genomes]
rs73515727	1.00[AMR][1000 genomes]
rs73515802	1.00[AMR][1000 genomes]
rs73517767	1.00[AMR][1000 genomes]
rs73517773	1.00[AMR][1000 genomes]
rs73517779	1.00[AMR][1000 genomes]
rs73517781	1.00[AMR][1000 genomes]
rs73668775	1.00[AMR][1000 genomes]
rs7847357	1.00[AMR][1000 genomes]
rs7847961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7855013	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869351	chr9:109593212-110191170	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv530948	chr9:109760752-110413602	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv831682	chr9:109937181-110075453	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv519266	chr9:110049477-110085255	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110048800-110069600	Weak transcription	Fetal Brain Male	brain
2	chr9:110051600-110079200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:110052600-110068800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr9:110052600-110069200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr9:110057200-110068800	Weak transcription	Brain Substantia Nigra	brain
6	chr9:110057200-110079200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:110057400-110074600	Weak transcription	Spleen	Spleen
8	chr9:110057400-110074800	Weak transcription	Psoas Muscle	Psoas
9	chr9:110058600-110074800	Weak transcription	Right Atrium	heart
10	chr9:110058600-110098600	Weak transcription	Small Intestine	intestine
11	chr9:110060200-110070000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:110061400-110094600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:110061600-110073400	Strong transcription	K562	blood
14	chr9:110061800-110068800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr9:110062000-110068800	Weak transcription	Brain Hippocampus Middle	brain
16	chr9:110062000-110076000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:110062000-110078000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr9:110062400-110077800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr9:110062400-110078600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr9:110062600-110078800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr9:110062800-110077600	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr9:110063000-110070600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr9:110063000-110073200	Strong transcription	GM12878-XiMat	blood
24	chr9:110063000-110077200	Strong transcription	A549	lung
25	chr9:110063000-110078200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr9:110063000-110079200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:110063200-110069800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr9:110063200-110069800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr9:110063200-110077400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr9:110063200-110077400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr9:110063200-110077800	Strong transcription	Placenta	Placenta
32	chr9:110063400-110068800	Weak transcription	Fetal Heart	heart
33	chr9:110063400-110071800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr9:110063400-110077800	Strong transcription	Fetal Lung	lung
35	chr9:110063600-110069200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr9:110063600-110070400	Strong transcription	NHEK	skin
37	chr9:110063600-110078600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:110063800-110073200	Strong transcription	NHLF	lung
39	chr9:110063800-110079200	Strong transcription	Osteobl	bone
40	chr9:110063800-110079400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr9:110064000-110069600	Strong transcription	NHDF-Ad	bronchial
42	chr9:110064000-110070200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr9:110064000-110073000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:110064000-110074400	Strong transcription	HSMM	muscle
45	chr9:110064000-110074600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr9:110064000-110074600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr9:110064000-110085000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr9:110064200-110071800	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr9:110065200-110070400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr9:110065200-110089200	Strong transcription	Fetal Thymus	thymus

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