Variant report

Variant	rs10984373
Chromosome Location	chr9:100683753-100683754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100682029..100688801-chr9:100740969..100749393,29	MCF-7	breast:
2	chr9:100682922..100687440-chr9:100817123..100820939,8	MCF-7	breast:
3	chr9:100442755..100444347-chr9:100682723..100684421,2	K562	blood:
4	chr9:100681549..100683928-chr9:100781112..100782667,2	K562	blood:
5	chr9:100393929..100396893-chr9:100683273..100687162,3	K562	blood:
6	chr9:100683337..100688322-chr9:101015638..101019207,5	MCF-7	breast:
7	chr9:100683217..100685598-chr9:100817702..100819594,2	MCF-7	breast:
8	chr9:100682586..100684494-chr9:100954318..100956463,2	MCF-7	breast:
9	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
10	chr9:100683356..100686345-chr9:100832359..100837233,6	MCF-7	breast:
11	chr9:100683172..100685162-chr9:100749919..100752438,2	MCF-7	breast:
12	chr9:100683079..100687048-chr9:101015405..101020638,4	K562	blood:
13	chr9:100466474..100468807-chr9:100682892..100684747,2	MCF-7	breast:
14	chr9:100683358..100685652-chr9:101557664..101560368,2	K562	blood:
15	chr9:100682507..100691249-chr9:100739828..100748095,35	MCF-7	breast:
16	chr9:100679913..100686278-chr9:100816188..100820459,11	K562	blood:
17	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:
18	chr9:100683227..100687367-chr9:100758311..100762778,5	K562	blood:
19	chr9:100682848..100684487-chr9:100772925..100774602,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000136925	Chromatin interaction
ENSG00000106789	Chromatin interaction
ENSG00000136937	Chromatin interaction
ENSG00000136938	Chromatin interaction
ENSG00000095380	Chromatin interaction
ENSG00000236896	Chromatin interaction
ENSG00000095383	Chromatin interaction
ENSG00000165138	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10760021	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10760022	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10984361	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10984405	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10984466	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10984499	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10984506	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12377604	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1475695	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1475696	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17431614	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17431934	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2120263	0.88[ASN][1000 genomes]
rs2282192	0.88[ASN][1000 genomes]
rs2417577	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3183927	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3183928	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3758253	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3758254	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3780420	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3808894	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3824496	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4631576	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4743145	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4743147	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55737216	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66990486	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7030887	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7030907	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs755109	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7861658	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7864655	0.88[ASN][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	nsv893611	chr9:100561055-100739888	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1048135	chr9:100666931-100717030	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv525113	chr9:100669799-100686815	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv524282	chr9:100677166-100684757	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100662800-100684200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:100667200-100684200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:100670000-100684200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:100670800-100684200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr9:100672800-100684200	Weak transcription	Esophagus	oesophagus
6	chr9:100673000-100684000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr9:100673600-100684000	Weak transcription	NHDF-Ad	bronchial
8	chr9:100673800-100684000	Weak transcription	Aorta	Aorta
9	chr9:100673800-100684200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr9:100673800-100684400	Weak transcription	Spleen	Spleen
11	chr9:100674600-100684000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:100675200-100683800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:100675200-100684000	Weak transcription	Colonic Mucosa	Colon
14	chr9:100675200-100684000	Weak transcription	A549	lung
15	chr9:100675200-100684000	Weak transcription	NH-A	brain
16	chr9:100675200-100684200	Weak transcription	Ovary	ovary
17	chr9:100675400-100684000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr9:100675400-100684000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr9:100675400-100684000	Weak transcription	Fetal Heart	heart
20	chr9:100675400-100684000	Weak transcription	Psoas Muscle	Psoas
21	chr9:100675400-100684000	Weak transcription	HUVEC	blood vessel
22	chr9:100675400-100684000	Weak transcription	Osteobl	bone
23	chr9:100675600-100684000	Weak transcription	NHLF	lung
24	chr9:100676000-100684000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr9:100676200-100683800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:100676200-100684000	Weak transcription	Fetal Brain Male	brain
27	chr9:100676200-100684200	Weak transcription	Gastric	stomach
28	chr9:100676400-100684000	Weak transcription	Brain Angular Gyrus	brain
29	chr9:100677400-100684000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:100678200-100684000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:100678400-100683800	Weak transcription	Fetal Brain Female	brain
32	chr9:100678400-100684000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:100678400-100684000	Weak transcription	Fetal Lung	lung
34	chr9:100678400-100684000	Weak transcription	Right Ventricle	heart
35	chr9:100678400-100684000	Weak transcription	HSMMtube	muscle
36	chr9:100678600-100683800	Weak transcription	HSMM	muscle
37	chr9:100678600-100684000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr9:100678600-100684000	Weak transcription	Fetal Stomach	stomach
39	chr9:100678600-100684200	Weak transcription	Left Ventricle	heart
40	chr9:100678600-100684200	Weak transcription	Lung	lung
41	chr9:100678600-100684200	Weak transcription	Pancreas	Pancrea
42	chr9:100678800-100683800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr9:100679000-100684000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:100679000-100684000	Weak transcription	Fetal Kidney	kidney
45	chr9:100680400-100684200	Enhancers	Primary hematopoietic stem cells	blood
46	chr9:100680600-100683800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:100680600-100684400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr9:100680800-100683800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr9:100680800-100684000	Enhancers	Dnd41	blood
50	chr9:100681400-100683800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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