Variant report

Variant	rs73490697
Chromosome Location	chr9:100752492-100752493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:100752396-100752869	K562	blood:	n/a	n/a
2	FOSL2	chr9:100752465-100753107	SK-N-SH	brain:	n/a	chr9:100752759-100752768 chr9:100752760-100752769
3	POLR2A	chr9:100752483-100753127	GM12878	blood:	n/a	n/a
4	POLR2A	chr9:100752447-100753010	K562	blood:	n/a	n/a
5	POLR2A	chr9:100752488-100752725	HepG2	liver:	n/a	n/a
6	POLR2A	chr9:100751738-100752934	HepG2	liver:	n/a	n/a
7	STAT3	chr9:100752003-100752622	MCF10A-Er-Src	breast:	n/a	n/a
8	JUND	chr9:100752436-100753098	SK-N-SH	brain:	n/a	chr9:100752758-100752769 chr9:100752759-100752768 chr9:100752760-100752769
9	JUND	chr9:100752439-100753107	SK-N-SH	brain:	n/a	chr9:100752758-100752769 chr9:100752759-100752768 chr9:100752760-100752769
10	CTCF	chr9:100752460-100752610	HCT-116	colon:	n/a	n/a
11	HEY1	chr9:100752414-100752747	K562	blood:	n/a	n/a
12	CTCF	chr9:100752420-100752570	HVMF	connective:	n/a	n/a
13	POLR2A	chr9:100751710-100752746	A549	lung:	n/a	n/a
14	POLR2A	chr9:100751989-100752963	HepG2	liver:	n/a	n/a
15	POLR2A	chr9:100751200-100753012	K562	blood:	n/a	n/a
16	POLR2A	chr9:100752471-100752716	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:
2	chr9:100685740..100686377-chr9:100751902..100753253,4	MCF-7	breast:
3	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
4	chr9:100751400..100754135-chr9:100768209..100771208,2	MCF-7	breast:

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12377347	0.89[AFR][1000 genomes]
rs16925952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16925999	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55966274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56160217	1.00[ASN][1000 genomes]
rs57210691	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57337895	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57559429	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57769363	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58253425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58506642	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60782937	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62575562	1.00[ASN][1000 genomes]
rs73492709	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73492711	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73492719	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73492720	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73492724	0.85[AFR][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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100747600-100752600	Weak transcription	Ovary	ovary
2	chr9:100748000-100753800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:100748000-100754000	Enhancers	Primary B cells from peripheral blood	blood
4	chr9:100748000-100754600	Weak transcription	Brain Substantia Nigra	brain
5	chr9:100748000-100756800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr9:100748000-100760400	Weak transcription	Fetal Kidney	kidney
7	chr9:100748000-100760800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr9:100748000-100767200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:100748200-100755000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr9:100748200-100756800	Enhancers	Colon Smooth Muscle	Colon
11	chr9:100748400-100761600	Weak transcription	Brain Anterior Caudate	brain
12	chr9:100748600-100752600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr9:100748600-100754600	Weak transcription	Colonic Mucosa	Colon
14	chr9:100748600-100755400	Weak transcription	Brain Angular Gyrus	brain
15	chr9:100748600-100757600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:100748800-100752800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:100748800-100753000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:100748800-100755000	Enhancers	HepG2	liver
19	chr9:100748800-100755400	Enhancers	A549	lung
20	chr9:100748800-100756200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr9:100748800-100756200	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr9:100748800-100756600	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr9:100748800-100756800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr9:100749000-100756400	Enhancers	Primary hematopoietic stem cells	blood
25	chr9:100749000-100756800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr9:100749000-100757800	Weak transcription	Fetal Stomach	stomach
27	chr9:100749200-100752600	Weak transcription	Lung	lung
28	chr9:100749200-100753000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr9:100749200-100754200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr9:100749200-100754400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr9:100749200-100754600	Weak transcription	Gastric	stomach
32	chr9:100749200-100754800	Enhancers	Primary T cells from cord blood	blood
33	chr9:100749200-100767200	Weak transcription	Esophagus	oesophagus
34	chr9:100749400-100753000	Genic enhancers	Dnd41	blood
35	chr9:100749400-100754400	Weak transcription	Fetal Lung	lung
36	chr9:100749400-100754600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr9:100750000-100753400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr9:100750000-100753800	Enhancers	Thymus	Thymus
39	chr9:100750000-100755200	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr9:100750000-100755400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr9:100750000-100755600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr9:100750000-100767200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr9:100750000-100767400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr9:100750200-100752600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr9:100750200-100756000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr9:100750400-100755200	Weak transcription	Brain Germinal Matrix	brain
47	chr9:100750400-100755200	Enhancers	Hela-S3	cervix
48	chr9:100750400-100757400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr9:100750600-100753200	Enhancers	HSMM	muscle
50	chr9:100750600-100753800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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