Variant report

Variant	rs7030907
Chromosome Location	chr9:100688577-100688578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:100687676-100688947	PBDE	blood:	n/a	n/a
2	POLR2A	chr9:100687610-100688999	K562	blood:	n/a	n/a
3	CUX1	chr9:100688338-100688859	K562	blood:	n/a	n/a
4	POLR2A	chr9:100687713-100689004	K562	blood:	n/a	n/a
5	POLR2A	chr9:100687704-100688583	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:100682029..100688801-chr9:100740969..100749393,29	MCF-7	breast:
2	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
3	chr9:100686261..100688755-chr9:100806613..100809213,2	K562	blood:
4	chr9:100682507..100691249-chr9:100739828..100748095,35	MCF-7	breast:
5	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:
6	chr9:100686308..100689678-chr9:101021142..101024168,3	MCF-7	breast:
7	chr9:100683275..100686964-chr9:100687287..100689294,4	MCF-7	breast:

No data

Variant related genes	Relation type
C9orf156	TF binding region
ENSG00000136938	Chromatin interaction
ENSG00000136932	Chromatin interaction
ENSG00000236896	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:46)

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	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10984361	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];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	0.85[JPT][hapmap];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	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12235434	0.97[ASN][1000 genomes]
rs12236440	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12237296	0.81[CHB][hapmap];0.86[JPT][hapmap];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	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1475696	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17431614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3183927	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3183928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3758253	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3758254	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3780416	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3780417	0.97[ASN][1000 genomes]
rs3780418	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3780419	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3780420	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3808894	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];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]
rs4618817	0.85[JPT][hapmap]
rs4631576	1.00[CEU][hapmap];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	1.00[CEU][hapmap];1.00[YRI][hapmap];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]
rs7025609	0.85[JPT][hapmap]
rs7030887	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];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	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];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:2 , 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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100686200-100690800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr9:100686200-100691400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr9:100686200-100692200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr9:100686200-100692200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr9:100686400-100690800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr9:100686600-100690600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr9:100686600-100690600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr9:100686600-100690600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr9:100686600-100691000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr9:100686800-100690600	Weak transcription	Thymus	Thymus
11	chr9:100686800-100691200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr9:100687200-100689800	Weak transcription	Primary T cells from cord blood	blood
13	chr9:100687200-100691400	Weak transcription	Fetal Thymus	thymus
14	chr9:100687400-100688800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr9:100687400-100690800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr9:100687800-100689200	Genic enhancers	K562	blood
17	chr9:100687800-100691400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr9:100688000-100690600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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