Variant report

Variant	rs10984649
Chromosome Location	chr9:100750014-100750015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr9:100749760-100750312	GM12878	blood:	n/a	n/a
2	SPI1	chr9:100749822-100750029	GM12891	blood:	n/a	n/a
3	HEY1	chr9:100749724-100750103	K562	blood:	n/a	n/a
4	POLR2A	chr9:100749764-100750389	K562	blood:	n/a	n/a
5	SPI1	chr9:100749866-100750046	GM12878	blood:	n/a	n/a
6	SPI1	chr9:100749784-100750033	GM12878	blood:	n/a	n/a
7	SPI1	chr9:100749788-100750154	HL-60	blood:	n/a	n/a
8	POLR2A	chr9:100749738-100750056	GM12878	blood:	n/a	n/a
9	WRNIP1	chr9:100749782-100750032	GM12878	blood:	n/a	n/a
10	POLR2A	chr9:100749940-100750214	HepG2	liver:	n/a	n/a
11	POLR2A	chr9:100749774-100750232	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr9:100749738-100750092	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:
2	chr9:100683172..100685162-chr9:100749919..100752438,2	MCF-7	breast:
3	chr9:100683922..100686421-chr9:100749688..100751954,2	MCF-7	breast:
4	chr9:100742340..100750312-chr9:100816953..100823782,17	MCF-7	breast:
5	chr9:100749336..100752167-chr9:100793207..100795151,3	K562	blood:
6	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236896	TF binding region
ENSG00000136929	Chromatin interaction
ENSG00000201830	Chromatin interaction
ENSG00000136932	Chromatin interaction
ENSG00000212521	Chromatin interaction
ENSG00000095380	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10984826	1.00[MEX][hapmap]
rs10984875	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[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	nsv893612	chr9:100732802-100754703	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100747600-100750600	Weak transcription	Aorta	Aorta
2	chr9:100747600-100752600	Weak transcription	Ovary	ovary
3	chr9:100747800-100750600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr9:100747800-100751000	Enhancers	Psoas Muscle	Psoas
5	chr9:100748000-100750200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr9:100748000-100750400	Enhancers	Brain Germinal Matrix	brain
7	chr9:100748000-100750400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr9:100748000-100750600	Weak transcription	Right Ventricle	heart
9	chr9:100748000-100750600	Enhancers	NHDF-Ad	bronchial
10	chr9:100748000-100751000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:100748000-100752200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr9:100748000-100752200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr9:100748000-100752200	Weak transcription	NH-A	brain
14	chr9:100748000-100753800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:100748000-100754000	Enhancers	Primary B cells from peripheral blood	blood
16	chr9:100748000-100754600	Weak transcription	Brain Substantia Nigra	brain
17	chr9:100748000-100756800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr9:100748000-100760400	Weak transcription	Fetal Kidney	kidney
19	chr9:100748000-100760800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr9:100748000-100767200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:100748200-100750400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr9:100748200-100750600	Enhancers	Fetal Thymus	thymus
23	chr9:100748200-100750800	Enhancers	Primary B cells from cord blood	blood
24	chr9:100748200-100755000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr9:100748200-100756800	Enhancers	Colon Smooth Muscle	Colon
26	chr9:100748400-100750200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr9:100748400-100751000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr9:100748400-100751000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr9:100748400-100761600	Weak transcription	Brain Anterior Caudate	brain
30	chr9:100748600-100750600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:100748600-100750800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr9:100748600-100752600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr9:100748600-100754600	Weak transcription	Colonic Mucosa	Colon
34	chr9:100748600-100755400	Weak transcription	Brain Angular Gyrus	brain
35	chr9:100748600-100757600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:100748800-100750200	Transcr. at gene 5' and 3'	K562	blood
37	chr9:100748800-100750600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr9:100748800-100750600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr9:100748800-100752000	Weak transcription	Fetal Intestine Small	intestine
40	chr9:100748800-100752000	Weak transcription	Placenta	Placenta
41	chr9:100748800-100752400	Weak transcription	Stomach Mucosa	stomach
42	chr9:100748800-100752800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr9:100748800-100753000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:100748800-100755000	Enhancers	HepG2	liver
45	chr9:100748800-100755400	Enhancers	A549	lung
46	chr9:100748800-100756200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr9:100748800-100756200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr9:100748800-100756600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr9:100748800-100756800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr9:100749000-100750600	Enhancers	NHEK	skin

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