Variant report

Variant	rs2515109
Chromosome Location	chr8:95440659-95440660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95431762..95433271-chr8:95439059..95441357,2	MCF-7	breast:
2	chr8:95440301..95443033-chr8:95473958..95476686,2	K562	blood:
3	chr8:95438523..95442837-chr8:95447009..95449291,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA1429-4	chr8:95439940-95442116	NONHSAT127771

Variant related genes	Relation type
ENSG00000265817	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10956912	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11778733	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11786007	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2244209	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2255130	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2263133	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2445698	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2445701	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2445702	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2445713	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2448907	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2448915	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2450248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450249	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450550	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450551	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2450552	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2450555	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2450560	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450562	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2450563	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2450564	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2450565	0.94[ASN][1000 genomes]
rs2450566	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2450571	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450574	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2450576	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2450577	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2450579	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2470727	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470729	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470730	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470734	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470736	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470737	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470738	0.83[ASN][1000 genomes]
rs2470741	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470743	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470744	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470745	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470747	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515097	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515101	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2515102	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515104	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515105	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515106	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515119	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2515120	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2515121	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515122	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515132	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515142	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515151	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2515152	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515158	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2515159	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515160	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515162	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515163	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515164	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515166	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2515168	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28503419	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3098702	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3098704	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3098727	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3099402	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136400	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136407	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136414	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56303696	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7007534	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs882521	0.81[AMR][1000 genomes];0.96[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1031480	chr8:95375696-95447407	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95393200-95447000	Weak transcription	K562	blood
2	chr8:95409400-95443000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:95412200-95447200	Weak transcription	Fetal Thymus	thymus
4	chr8:95416800-95445200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:95429600-95446200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:95430400-95447200	Weak transcription	Fetal Intestine Small	intestine
7	chr8:95430600-95441600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:95430600-95446400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:95430600-95447000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:95430600-95447400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:95430800-95446400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:95431000-95440800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:95431000-95442600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:95431000-95442800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:95431000-95442800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr8:95431000-95445400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:95431000-95446800	Weak transcription	HMEC	breast
18	chr8:95431000-95447400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:95431000-95447400	Weak transcription	HSMM	muscle
20	chr8:95431000-95447400	Weak transcription	NHDF-Ad	bronchial
21	chr8:95431000-95448600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:95431000-95448600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:95431200-95442600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:95431200-95442800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:95432400-95478600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:95432800-95443000	Weak transcription	Dnd41	blood
27	chr8:95433600-95446400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr8:95433800-95444400	Weak transcription	Primary T cells from cord blood	blood
29	chr8:95433800-95447200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr8:95434000-95443800	Weak transcription	A549	lung
31	chr8:95434000-95447400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr8:95436200-95442800	Weak transcription	GM12878-XiMat	blood
33	chr8:95437600-95442400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:95438200-95447600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:95439000-95445200	Weak transcription	HepG2	liver
36	chr8:95440600-95442600	Weak transcription	H9 Cell Line	embryonic stem cell

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