Variant report

Variant	rs73209913
Chromosome Location	chr8:10693123-10693124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10690421..10694581-chr8:10695821..10698975,5	MCF-7	breast:
2	chr8:10692044..10695028-chr8:10695086..10697405,2	MCF-7	breast:
3	chr8:10450511..10453354-chr8:10693058..10695560,2	K562	blood:

Variant related genes	Relation type
ENSG00000253695	Chromatin interaction
ENSG00000254093	Chromatin interaction
ENSG00000258724	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10503409	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10503410	0.84[EUR][1000 genomes]
rs1106740	0.84[EUR][1000 genomes]
rs11995539	0.84[EUR][1000 genomes]
rs11998382	0.84[EUR][1000 genomes]
rs12155811	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12375394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12750	0.81[EUR][1000 genomes]
rs1549792	0.84[EUR][1000 genomes]
rs1549793	0.84[EUR][1000 genomes]
rs17712981	0.80[EUR][1000 genomes]
rs17718772	0.83[EUR][1000 genomes]
rs17720365	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17721089	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17774331	0.81[EUR][1000 genomes]
rs17774398	0.81[EUR][1000 genomes]
rs17774627	0.83[EUR][1000 genomes]
rs17776404	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17776427	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17776497	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17776622	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17776946	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2005310	0.84[EUR][1000 genomes]
rs55637012	0.84[EUR][1000 genomes]
rs55848210	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56023918	0.83[EUR][1000 genomes]
rs56046029	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56109041	0.84[EUR][1000 genomes]
rs56122299	0.84[EUR][1000 genomes]
rs57348261	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58193873	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6984391	0.83[EUR][1000 genomes]
rs7002757	0.83[EUR][1000 genomes]
rs714370	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73200740	0.81[EUR][1000 genomes]
rs73200742	0.81[EUR][1000 genomes]
rs73208756	0.84[EUR][1000 genomes]
rs73208757	0.84[EUR][1000 genomes]
rs73208762	0.84[EUR][1000 genomes]
rs73208766	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73208769	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73208773	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73208775	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73208778	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73208781	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73208782	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73208785	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73208789	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73208790	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73208791	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73208792	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73208793	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73208794	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73208795	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73209918	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73209921	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73209922	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7817252	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7817654	0.81[EUR][1000 genomes]
rs7826036	0.84[EUR][1000 genomes]
rs7827063	0.84[EUR][1000 genomes]
rs7845731	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs891558	0.81[EUR][1000 genomes]
rs891559	0.81[EUR][1000 genomes]
rs9650659	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv508497	chr8:10680621-10750255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10663000-10696200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:10666400-10695200	Strong transcription	Primary T cells from cord blood	blood
3	chr8:10667600-10693200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:10668400-10696200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:10674600-10693200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:10674800-10696200	Weak transcription	Stomach Mucosa	stomach
7	chr8:10676200-10696200	Weak transcription	Fetal Heart	heart
8	chr8:10683200-10696000	Weak transcription	NHLF	lung
9	chr8:10683600-10696200	Weak transcription	Fetal Kidney	kidney
10	chr8:10684400-10696200	Weak transcription	NHDF-Ad	bronchial
11	chr8:10686200-10696600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:10686400-10696400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:10686600-10693200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
14	chr8:10688000-10696000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:10688000-10696200	Weak transcription	Fetal Brain Male	brain
16	chr8:10688400-10694800	Strong transcription	NHEK	skin
17	chr8:10688800-10696200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:10688800-10696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:10689800-10696200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:10690600-10696000	Weak transcription	HUVEC	blood vessel
21	chr8:10690600-10696200	Weak transcription	NH-A	brain
22	chr8:10690800-10693800	Weak transcription	HepG2	liver
23	chr8:10690800-10696000	Weak transcription	HSMM	muscle
24	chr8:10690800-10696200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr8:10691000-10695400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr8:10691000-10696000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:10691000-10696000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr8:10691000-10696000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:10691000-10696000	Weak transcription	HSMMtube	muscle
30	chr8:10691000-10696000	Weak transcription	Osteobl	bone
31	chr8:10691000-10696200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:10691000-10696200	Weak transcription	Brain Angular Gyrus	brain
33	chr8:10691200-10695400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:10691400-10696000	Weak transcription	Brain Substantia Nigra	brain
35	chr8:10691400-10696000	Weak transcription	Colon Smooth Muscle	Colon
36	chr8:10691400-10696200	Weak transcription	Fetal Intestine Small	intestine
37	chr8:10691400-10696600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:10691400-10696600	Weak transcription	Small Intestine	intestine
39	chr8:10691600-10696200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:10691600-10696600	Weak transcription	Aorta	Aorta
41	chr8:10691800-10693800	Weak transcription	GM12878-XiMat	blood
42	chr8:10691800-10694400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:10691800-10695200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:10691800-10696000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:10691800-10696000	Weak transcription	Fetal Stomach	stomach
46	chr8:10691800-10696200	Weak transcription	Placenta	Placenta
47	chr8:10691800-10696600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:10691800-10696600	Weak transcription	Lung	lung
49	chr8:10691800-10696600	Weak transcription	Ovary	ovary
50	chr8:10692000-10693600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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