Variant report

Variant	rs9887822
Chromosome Location	chr1:150037228-150037229
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr1:150037207-150037509	K562	blood:	n/a	n/a
2	SPI1	chr1:150037093-150037469	GM12891	blood:	n/a	chr1:150037390-150037399 chr1:150037389-150037402
3	SPI1	chr1:150037184-150037465	GM12878	blood:	n/a	chr1:150037390-150037399 chr1:150037389-150037402
4	SPI1	chr1:150037219-150037487	K562	blood:	n/a	chr1:150037390-150037399 chr1:150037389-150037402
5	JUN	chr1:150037046-150038074	K562	blood:	n/a	chr1:150037651-150037660 chr1:150037652-150037661 chr1:150037650-150037662
6	SPI1	chr1:150037178-150037475	GM12891	blood:	n/a	chr1:150037390-150037399 chr1:150037389-150037402
7	MAX	chr1:150037206-150037476	K562	blood:	n/a	n/a
8	SPI1	chr1:150037193-150037633	HL-60	blood:	n/a	chr1:150037390-150037399 chr1:150037389-150037402
9	MAX	chr1:150037138-150037462	K562	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150035483..150047454-chr1:150129931..150138567,28	MCF-7	breast:
2	chr1:149908339..149915829-chr1:150035449..150039990,12	MCF-7	breast:
3	chr1:150029169..150032073-chr1:150037083..150039053,2	K562	blood:
4	chr1:149900572..149902334-chr1:150036988..150039201,2	K562	blood:
5	chr1:149980215..149982750-chr1:150036474..150039068,2	K562	blood:
6	chr1:150027925..150032582-chr1:150032961..150038144,5	K562	blood:
7	chr1:149907171..149915966-chr1:150036158..150043011,15	MCF-7	breast:
8	chr1:149855827..149861924-chr1:150032527..150042362,32	MCF-7	breast:
9	chr1:149817827..149821431-chr1:150036446..150041414,4	K562	blood:
10	chr1:150036699..150038403-chr1:150126898..150129215,2	MCF-7	breast:
11	chr1:149854948..149862391-chr1:150036900..150043965,32	MCF-7	breast:
12	chr1:149855739..149860992-chr1:150036779..150042618,12	K562	blood:
13	chr1:150036033..150038472-chr1:150149719..150151495,2	K562	blood:
14	chr1:149977821..149984701-chr1:150037094..150041280,13	MCF-7	breast:
15	chr1:150036735..150038527-chr1:150146288..150147861,2	K562	blood:
16	chr1:150036486..150039055-chr1:150205387..150207160,2	K562	blood:
17	chr1:149855739..149863622-chr1:150034266..150042059,13	K562	blood:
18	chr1:149980215..149984264-chr1:150036474..150041542,10	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTUD7B-2	chr1:150035352-150039341	NONHSAT006267

No data

Variant related genes	Relation type
VPS45	TF binding region
ENSG00000261716	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000023902	Chromatin interaction
ENSG00000014914	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11205315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11205335	1.00[AMR][1000 genomes]
rs11205336	1.00[AMR][1000 genomes]
rs12058370	1.00[AFR][1000 genomes]
rs12058676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12059991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060128	1.00[AMR][1000 genomes]
rs12079624	1.00[AMR][1000 genomes]
rs12085962	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57859152	1.00[AMR][1000 genomes]
rs58826204	1.00[AMR][1000 genomes]
rs6698713	1.00[AMR][1000 genomes]
rs6698937	1.00[AMR][1000 genomes]
rs7528173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7535225	1.00[AMR][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	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases
2	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150017600-150037600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:150018200-150038600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:150022800-150038600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:150032600-150037800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:150032800-150038600	Weak transcription	Fetal Intestine Small	intestine
6	chr1:150033800-150038800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:150034000-150038600	Weak transcription	Right Atrium	heart
8	chr1:150034200-150037400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:150034200-150037600	Weak transcription	HMEC	breast
10	chr1:150034200-150038000	Weak transcription	Stomach Mucosa	stomach
11	chr1:150034200-150038000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:150034200-150038600	Weak transcription	Brain Anterior Caudate	brain
13	chr1:150034200-150038600	Weak transcription	Fetal Stomach	stomach
14	chr1:150034400-150038200	Weak transcription	Fetal Kidney	kidney
15	chr1:150034400-150038600	Weak transcription	Fetal Thymus	thymus
16	chr1:150035600-150039000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:150036400-150037400	Enhancers	Ovary	ovary
18	chr1:150036600-150037600	Enhancers	Brain Germinal Matrix	brain
19	chr1:150036600-150038600	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:150036600-150038800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:150036800-150037400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:150036800-150037600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:150036800-150037800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:150037000-150037400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:150037000-150037400	Enhancers	Left Ventricle	heart
26	chr1:150037000-150037400	Enhancers	Psoas Muscle	Psoas
27	chr1:150037000-150037400	Enhancers	Small Intestine	intestine
28	chr1:150037000-150037600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:150037000-150037800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:150037000-150037800	Enhancers	GM12878-XiMat	blood
31	chr1:150037000-150037800	Enhancers	NHLF	lung
32	chr1:150037000-150038000	Enhancers	HSMMtube	muscle
33	chr1:150037000-150038000	Enhancers	NH-A	brain
34	chr1:150037000-150038000	Enhancers	NHEK	skin
35	chr1:150037000-150038200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr1:150037000-150038200	Enhancers	HepG2	liver
37	chr1:150037000-150038400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr1:150037000-150038600	Enhancers	HSMM	muscle
39	chr1:150037000-150038600	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr1:150037200-150037400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:150037200-150037400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr1:150037200-150037400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:150037200-150037400	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr1:150037200-150037600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:150037200-150037600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:150037200-150037600	Enhancers	Dnd41	blood
47	chr1:150037200-150037600	Enhancers	HUVEC	blood vessel
48	chr1:150037200-150037600	Enhancers	K562	blood
49	chr1:150037200-150037800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr1:150037200-150037800	Weak transcription	Fetal Brain Male	brain

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