Variant report

Variant	rs11786007
Chromosome Location	chr8:95467449-95467450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95466958..95468807-chr8:95478608..95481417,2	K562	blood:
2	chr8:95467104..95469592-chr8:95471251..95474139,2	K562	blood:

Variant related genes	Relation type
ENSG00000197275	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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778733	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244209	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2255130	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2263133	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2445698	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2445701	0.88[ASN][1000 genomes]
rs2445702	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2445713	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2448907	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2448915	0.88[ASN][1000 genomes]
rs2450248	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2450249	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2450550	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2450551	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2450552	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2450555	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2450560	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2450562	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2450563	0.93[ASN][1000 genomes]
rs2450564	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2450565	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2450566	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2450571	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2450574	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2450576	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2450577	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2450579	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2470727	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2470729	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2470730	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2470734	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2470736	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2470737	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2470738	0.82[ASN][1000 genomes]
rs2470741	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2470743	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2470744	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2470745	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2470747	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515097	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515101	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2515102	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2515104	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515105	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515106	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515109	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515119	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2515120	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2515121	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2515122	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2515132	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2515142	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515151	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2515152	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2515158	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2515159	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515160	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515162	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515163	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515164	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515166	0.86[ASN][1000 genomes]
rs2515168	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28503419	0.99[ASN][1000 genomes]
rs3098702	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3098704	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098727	0.96[EUR][1000 genomes]
rs3099402	0.96[EUR][1000 genomes]
rs3136400	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3136407	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3136414	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56303696	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007534	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882521	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	esv1835971	chr8:95467241-95490541	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95432400-95478600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:95449400-95485200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:95449400-95486200	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:95449800-95476200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:95449800-95479600	Weak transcription	NH-A	brain
6	chr8:95450000-95468200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:95450000-95486000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:95450200-95480000	Weak transcription	NHEK	skin
9	chr8:95450400-95479800	Weak transcription	HMEC	breast
10	chr8:95450600-95478400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:95450600-95484800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:95451400-95467800	Weak transcription	Small Intestine	intestine
13	chr8:95453000-95476000	Weak transcription	HUVEC	blood vessel
14	chr8:95453000-95476400	Weak transcription	Thymus	Thymus
15	chr8:95454000-95485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:95454200-95485400	Weak transcription	Fetal Intestine Small	intestine
17	chr8:95455400-95485000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:95455600-95486200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:95456000-95471000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:95456000-95476200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:95457800-95475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:95458000-95472200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:95458000-95472400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:95459800-95476400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:95460000-95485000	Weak transcription	HepG2	liver
26	chr8:95460600-95471400	Weak transcription	Fetal Stomach	stomach
27	chr8:95461200-95469600	Weak transcription	NHLF	lung
28	chr8:95462000-95486400	Weak transcription	Primary B cells from cord blood	blood
29	chr8:95462800-95468400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:95462800-95468800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:95464400-95479800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:95464400-95485800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:95465200-95480600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:95465800-95468400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:95466600-95471200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:95466800-95470600	Strong transcription	Dnd41	blood
37	chr8:95467000-95468800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:95467000-95468800	Enhancers	Fetal Lung	lung
39	chr8:95467000-95469400	Weak transcription	Fetal Thymus	thymus
40	chr8:95467000-95469400	Flanking Active TSS	GM12878-XiMat	blood
41	chr8:95467000-95469800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:95467000-95477200	Weak transcription	K562	blood
43	chr8:95467200-95467600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
44	chr8:95467200-95467600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:95467200-95467600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:95467200-95467600	Enhancers	Stomach Mucosa	stomach
47	chr8:95467200-95468000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:95467400-95467600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:95467400-95467800	Enhancers	A549	lung
50	chr8:95467400-95468000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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