Variant report

Variant	rs55966274
Chromosome Location	chr9:100750717-100750718
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:100750490-100751000	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr9:100750587-100750998	K562	blood:	n/a	n/a
3	POLR2A	chr9:100750596-100751062	K562	blood:	n/a	n/a
4	POLR2A	chr9:100750446-100750935	GM12892	blood:	n/a	n/a
5	POLR2A	chr9:100750427-100750837	K562	blood:	n/a	n/a
6	POLR2A	chr9:100750708-100750961	HepG2	liver:	n/a	n/a
7	WRNIP1	chr9:100750686-100750894	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:100750457..100752054-chr9:101020861..101022446,2	K562	blood:
2	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:
3	chr9:100683172..100685162-chr9:100749919..100752438,2	MCF-7	breast:
4	chr9:100683922..100686421-chr9:100749688..100751954,2	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
ENSG00000136932	Chromatin interaction
ENSG00000136929	Chromatin interaction
ENSG00000212521	Chromatin interaction
ENSG00000201830	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12377347	0.89[AFR][1000 genomes]
rs16925952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16925999	1.00[AMR][1000 genomes]
rs57210691	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57337895	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57559429	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57769363	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58253425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58506642	0.88[AFR][1000 genomes]
rs60782937	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73490697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492709	1.00[AMR][1000 genomes]
rs73492711	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492719	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492720	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492724	0.85[AFR][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	chr9:100747600-100752600	Weak transcription	Ovary	ovary
2	chr9:100747800-100751000	Enhancers	Psoas Muscle	Psoas
3	chr9:100748000-100751000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:100748000-100752200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr9:100748000-100752200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr9:100748000-100752200	Weak transcription	NH-A	brain
7	chr9:100748000-100753800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:100748000-100754000	Enhancers	Primary B cells from peripheral blood	blood
9	chr9:100748000-100754600	Weak transcription	Brain Substantia Nigra	brain
10	chr9:100748000-100756800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr9:100748000-100760400	Weak transcription	Fetal Kidney	kidney
12	chr9:100748000-100760800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr9:100748000-100767200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr9:100748200-100750800	Enhancers	Primary B cells from cord blood	blood
15	chr9:100748200-100755000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr9:100748200-100756800	Enhancers	Colon Smooth Muscle	Colon
17	chr9:100748400-100751000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr9:100748400-100751000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr9:100748400-100761600	Weak transcription	Brain Anterior Caudate	brain
20	chr9:100748600-100750800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:100748600-100752600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr9:100748600-100754600	Weak transcription	Colonic Mucosa	Colon
23	chr9:100748600-100755400	Weak transcription	Brain Angular Gyrus	brain
24	chr9:100748600-100757600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:100748800-100752000	Weak transcription	Fetal Intestine Small	intestine
26	chr9:100748800-100752000	Weak transcription	Placenta	Placenta
27	chr9:100748800-100752400	Weak transcription	Stomach Mucosa	stomach
28	chr9:100748800-100752800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:100748800-100753000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:100748800-100755000	Enhancers	HepG2	liver
31	chr9:100748800-100755400	Enhancers	A549	lung
32	chr9:100748800-100756200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr9:100748800-100756200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr9:100748800-100756600	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr9:100748800-100756800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr9:100749000-100751200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr9:100749000-100751400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:100749000-100751600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:100749000-100751600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr9:100749000-100751600	Flanking Active TSS	GM12878-XiMat	blood
41	chr9:100749000-100751800	Weak transcription	NHLF	lung
42	chr9:100749000-100756400	Enhancers	Primary hematopoietic stem cells	blood
43	chr9:100749000-100756800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr9:100749000-100757800	Weak transcription	Fetal Stomach	stomach
45	chr9:100749200-100751000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr9:100749200-100751200	Weak transcription	Small Intestine	intestine
47	chr9:100749200-100751200	Weak transcription	Osteobl	bone
48	chr9:100749200-100752200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr9:100749200-100752400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr9:100749200-100752600	Weak transcription	Lung	lung

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