Variant report

Variant	rs10984375
Chromosome Location	chr9:100684051-100684052
allele	A/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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 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	chr3:39455893..39456821-chr9:100683995..100684518,2	HCT-116	colon:
5	chr9:100683922..100686421-chr9:100749688..100751954,2	MCF-7	breast:
6	chr9:100393929..100396893-chr9:100683273..100687162,3	K562	blood:
7	chr9:100458137..100459680-chr9:100684005..100686050,2	MCF-7	breast:
8	chr9:100683337..100688322-chr9:101015638..101019207,5	MCF-7	breast:
9	chr9:100683217..100685598-chr9:100817702..100819594,2	MCF-7	breast:
10	chr9:100682586..100684494-chr9:100954318..100956463,2	MCF-7	breast:
11	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
12	chr9:100683356..100686345-chr9:100832359..100837233,6	MCF-7	breast:
13	chr9:100683172..100685162-chr9:100749919..100752438,2	MCF-7	breast:
14	chr9:100683079..100687048-chr9:101015405..101020638,4	K562	blood:
15	chr9:100466474..100468807-chr9:100682892..100684747,2	MCF-7	breast:
16	chr9:100683358..100685652-chr9:101557664..101560368,2	K562	blood:
17	chr9:100682507..100691249-chr9:100739828..100748095,35	MCF-7	breast:
18	chr1:145507315..145508085-chr9:100684014..100684726,2	Hela-S3	cervix:
19	chr9:100679913..100686278-chr9:100816188..100820459,11	K562	blood:
20	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:
21	chr9:100683227..100687367-chr9:100758311..100762778,5	K562	blood:
22	chr9:100682848..100684487-chr9:100772925..100774602,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000095383	Chromatin interaction
ENSG00000234222	Chromatin interaction
ENSG00000136936	Chromatin interaction
ENSG00000165138	Chromatin interaction
ENSG00000136938	Chromatin interaction
ENSG00000136937	Chromatin interaction
ENSG00000131795	Chromatin interaction
ENSG00000236896	Chromatin interaction
ENSG00000106789	Chromatin interaction
ENSG00000095380	Chromatin interaction
ENSG00000136925	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10984297	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10984349	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10984361	0.83[ASN][1000 genomes]
rs10984462	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10984478	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10984484	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10984588	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10984599	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10984601	0.82[AMR][1000 genomes]
rs1127703	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12235434	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12236440	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12237296	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17431614	0.83[ASN][1000 genomes]
rs3780416	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3780417	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3780418	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3780419	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3808894	0.83[ASN][1000 genomes]
rs3824496	0.83[ASN][1000 genomes]
rs4498663	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4618817	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4743145	0.83[ASN][1000 genomes]
rs62574035	0.82[AMR][1000 genomes]
rs66990486	0.83[ASN][1000 genomes]
rs67975003	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs68053069	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7024281	0.82[AMR][1000 genomes]
rs7025609	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7030887	0.83[ASN][1000 genomes]
rs7030907	0.83[ASN][1000 genomes]
rs72753548	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72753572	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72753587	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7861658	0.83[ASN][1000 genomes]
rs7864655	0.89[AMR][1000 genomes];0.94[EUR][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:122 , 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	chr9:100673800-100684200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr9:100673800-100684400	Weak transcription	Spleen	Spleen
8	chr9:100675200-100684200	Weak transcription	Ovary	ovary
9	chr9:100676200-100684200	Weak transcription	Gastric	stomach
10	chr9:100678600-100684200	Weak transcription	Left Ventricle	heart
11	chr9:100678600-100684200	Weak transcription	Lung	lung
12	chr9:100678600-100684200	Weak transcription	Pancreas	Pancrea
13	chr9:100680400-100684200	Enhancers	Primary hematopoietic stem cells	blood
14	chr9:100680600-100684400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr9:100681800-100684400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:100682000-100684400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr9:100683000-100684200	Weak transcription	Small Intestine	intestine
18	chr9:100683000-100684600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr9:100683000-100685400	Active TSS	K562	blood
20	chr9:100683000-100685600	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr9:100683200-100684200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr9:100683400-100684200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:100683400-100684200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr9:100683400-100685400	Active TSS	Primary T cells from cord blood	blood
25	chr9:100683400-100685400	Active TSS	Duodenum Mucosa	Duodenum
26	chr9:100683400-100685400	Active TSS	GM12878-XiMat	blood
27	chr9:100683400-100685600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr9:100683600-100684200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr9:100683600-100685200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr9:100683600-100685400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:100683600-100685400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr9:100683600-100685400	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr9:100683600-100686400	Active TSS	Thymus	Thymus
34	chr9:100683800-100684200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr9:100683800-100684200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:100683800-100684200	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr9:100683800-100684400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr9:100683800-100684400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:100683800-100684400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:100683800-100685000	Active TSS	Hela-S3	cervix
41	chr9:100683800-100685400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr9:100683800-100685400	Active TSS	HSMM	muscle
43	chr9:100683800-100685800	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr9:100683800-100686200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr9:100683800-100686200	Active TSS	Fetal Brain Female	brain
46	chr9:100683800-100686200	Active TSS	Rectal Smooth Muscle	rectum
47	chr9:100684000-100684200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr9:100684000-100684200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr9:100684000-100684200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr9:100684000-100684200	Flanking Active TSS	Primary B cells from cord blood	blood

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