Variant report

Variant	rs17431614
Chromosome Location	chr9:100684387-100684388
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:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 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	chr2:73612640..73613510-chr9:100684147..100685046,2	Hela-S3	cervix:
4	chr9:100442755..100444347-chr9:100682723..100684421,2	K562	blood:
5	chr3:39455893..39456821-chr9:100683995..100684518,2	HCT-116	colon:
6	chr19:5690248..5690846-chr9:100684329..100685317,2	Hela-S3	cervix:
7	chr9:100683922..100686421-chr9:100749688..100751954,2	MCF-7	breast:
8	chr9:100393929..100396893-chr9:100683273..100687162,3	K562	blood:
9	chr9:100458137..100459680-chr9:100684005..100686050,2	MCF-7	breast:
10	chr9:100683337..100688322-chr9:101015638..101019207,5	MCF-7	breast:
11	chr9:100683217..100685598-chr9:100817702..100819594,2	MCF-7	breast:
12	chr9:100682586..100684494-chr9:100954318..100956463,2	MCF-7	breast:
13	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
14	chr9:100683356..100686345-chr9:100832359..100837233,6	MCF-7	breast:
15	chr9:100683172..100685162-chr9:100749919..100752438,2	MCF-7	breast:
16	chr9:100683079..100687048-chr9:101015405..101020638,4	K562	blood:
17	chr9:100466474..100468807-chr9:100682892..100684747,2	MCF-7	breast:
18	chr9:100683358..100685652-chr9:101557664..101560368,2	K562	blood:
19	chr9:100682507..100691249-chr9:100739828..100748095,35	MCF-7	breast:
20	chr2:162016997..162017961-chr9:100684374..100684996,2	Hela-S3	cervix:
21	chr17:7387588..7388177-chr9:100684359..100685331,2	Hela-S3	cervix:
22	chr1:145507315..145508085-chr9:100684014..100684726,2	Hela-S3	cervix:
23	chr1:43637450..43638367-chr9:100684269..100684815,2	Hela-S3	cervix:
24	chr9:100684278..100686693-chr9:100816052..100820620,8	K562	blood:
25	chr10:35484287..35485259-chr9:100684125..100684996,2	Hela-S3	cervix:
26	chr2:204400007..204400680-chr9:100684347..100685133,2	Hela-S3	cervix:
27	chr9:100679913..100686278-chr9:100816188..100820459,11	K562	blood:
28	chr17:52978107..52978650-chr9:100684226..100685178,2	Hela-S3	cervix:
29	chr9:19048684..19049542-chr9:100684339..100685327,2	Hela-S3	cervix:
30	chr6:31703444..31704424-chr9:100684339..100685051,2	Hela-S3	cervix:
31	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:
32	chr16:10674320..10675054-chr9:100684357..100685157,2	Hela-S3	cervix:
33	chr9:100683227..100687367-chr9:100758311..100762778,5	K562	blood:
34	chr9:100682848..100684487-chr9:100772925..100774602,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234222	Chromatin interaction
ENSG00000095380	Chromatin interaction
ENSG00000136925	Chromatin interaction
ENSG00000116127	Chromatin interaction
ENSG00000173166	Chromatin interaction
ENSG00000095794	Chromatin interaction
ENSG00000136938	Chromatin interaction
ENSG00000213719	Chromatin interaction
ENSG00000131795	Chromatin interaction
ENSG00000130255	Chromatin interaction
ENSG00000236896	Chromatin interaction
ENSG00000243710	Chromatin interaction
ENSG00000181222	Chromatin interaction
ENSG00000213853	Chromatin interaction
ENSG00000155876	Chromatin interaction
ENSG00000106789	Chromatin interaction
ENSG00000136560	Chromatin interaction
ENSG00000136936	Chromatin interaction
ENSG00000165138	Chromatin interaction
ENSG00000095383	Chromatin interaction
ENSG00000136937	Chromatin interaction
ENSG00000141198	Chromatin interaction
ENSG00000117395	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10760021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10760022	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10984297	0.93[ASN][1000 genomes]
rs10984349	0.97[ASN][1000 genomes]
rs10984361	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10984373	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10984375	0.83[ASN][1000 genomes]
rs10984405	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10984462	0.82[ASN][1000 genomes]
rs10984466	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10984499	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10984506	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1127703	0.97[ASN][1000 genomes]
rs12235434	0.97[ASN][1000 genomes]
rs12236440	0.97[ASN][1000 genomes]
rs12237296	0.97[ASN][1000 genomes]
rs12377604	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1475695	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1475696	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17431934	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2417577	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3183927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3183928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3758253	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3758254	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3780416	0.97[ASN][1000 genomes]
rs3780417	0.97[ASN][1000 genomes]
rs3780418	0.97[ASN][1000 genomes]
rs3780419	0.97[ASN][1000 genomes]
rs3780420	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3808894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824496	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4631576	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4743145	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743147	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55737216	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66990486	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67975003	0.82[ASN][1000 genomes]
rs7030887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7030907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753548	0.89[ASN][1000 genomes]
rs72753572	0.82[ASN][1000 genomes]
rs755109	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7861658	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100673800-100684400	Weak transcription	Spleen	Spleen
2	chr9:100680600-100684400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr9:100681800-100684400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:100682000-100684400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr9:100683000-100684600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr9:100683000-100685400	Active TSS	K562	blood
7	chr9:100683000-100685600	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr9:100683400-100685400	Active TSS	Primary T cells from cord blood	blood
9	chr9:100683400-100685400	Active TSS	Duodenum Mucosa	Duodenum
10	chr9:100683400-100685400	Active TSS	GM12878-XiMat	blood
11	chr9:100683400-100685600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:100683600-100685200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr9:100683600-100685400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:100683600-100685400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr9:100683600-100685400	Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr9:100683600-100686400	Active TSS	Thymus	Thymus
17	chr9:100683800-100684400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr9:100683800-100684400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:100683800-100684400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:100683800-100685000	Active TSS	Hela-S3	cervix
21	chr9:100683800-100685400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr9:100683800-100685400	Active TSS	HSMM	muscle
23	chr9:100683800-100685800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr9:100683800-100686200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:100683800-100686200	Active TSS	Fetal Brain Female	brain
26	chr9:100683800-100686200	Active TSS	Rectal Smooth Muscle	rectum
27	chr9:100684000-100684400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:100684000-100684400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr9:100684000-100684400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:100684000-100684400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr9:100684000-100684400	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr9:100684000-100684400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr9:100684000-100684400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr9:100684000-100684400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr9:100684000-100684400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr9:100684000-100684400	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr9:100684000-100684400	Flanking Active TSS	Fetal Thymus	thymus
38	chr9:100684000-100684400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr9:100684000-100684400	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr9:100684000-100684400	Flanking Active TSS	Dnd41	blood
41	chr9:100684000-100684400	Flanking Active TSS	HUVEC	blood vessel
42	chr9:100684000-100684400	Flanking Active TSS	NHLF	lung
43	chr9:100684000-100685000	Active TSS	HSMMtube	muscle
44	chr9:100684000-100685200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr9:100684000-100685400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:100684000-100685400	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr9:100684000-100685400	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr9:100684000-100685400	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr9:100684000-100685400	Active TSS	Brain Cingulate Gyrus	brain
50	chr9:100684000-100685400	Active TSS	Brain Hippocampus Middle	brain

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