Variant report

Variant	rs57689233
Chromosome Location	chr8:10693463-10693464
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
ENSG00000258724	Chromatin interaction
ENSG00000254093	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10089548	0.83[ASN][1000 genomes]
rs10503411	0.83[ASN][1000 genomes]
rs11774457	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11776965	0.88[ASN][1000 genomes]
rs11779094	0.94[ASN][1000 genomes]
rs11779336	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11782490	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11787390	0.84[EUR][1000 genomes]
rs13265197	0.94[ASN][1000 genomes]
rs13269447	0.94[ASN][1000 genomes]
rs17152542	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17152623	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17721760	0.82[EUR][1000 genomes]
rs2409660	0.83[ASN][1000 genomes]
rs28544530	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28675255	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28706358	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2898245	0.94[ASN][1000 genomes]
rs3808604	0.82[ASN][1000 genomes]
rs4840515	0.83[ASN][1000 genomes]
rs4840518	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4841447	0.94[ASN][1000 genomes]
rs4841448	0.94[ASN][1000 genomes]
rs4841449	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4841453	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4841455	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57868806	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983956	0.83[ASN][1000 genomes]
rs7008259	0.82[AMR][1000 genomes]
rs73531553	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73531554	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73533521	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73533523	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73542533	0.81[AMR][1000 genomes]
rs7813875	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][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	chr8:10668400-10696200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:10674800-10696200	Weak transcription	Stomach Mucosa	stomach
5	chr8:10676200-10696200	Weak transcription	Fetal Heart	heart
6	chr8:10683200-10696000	Weak transcription	NHLF	lung
7	chr8:10683600-10696200	Weak transcription	Fetal Kidney	kidney
8	chr8:10684400-10696200	Weak transcription	NHDF-Ad	bronchial
9	chr8:10686200-10696600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:10686400-10696400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:10688000-10696000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:10688000-10696200	Weak transcription	Fetal Brain Male	brain
13	chr8:10688400-10694800	Strong transcription	NHEK	skin
14	chr8:10688800-10696200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:10688800-10696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:10689800-10696200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:10690600-10696000	Weak transcription	HUVEC	blood vessel
18	chr8:10690600-10696200	Weak transcription	NH-A	brain
19	chr8:10690800-10693800	Weak transcription	HepG2	liver
20	chr8:10690800-10696000	Weak transcription	HSMM	muscle
21	chr8:10690800-10696200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr8:10691000-10695400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:10691000-10696000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:10691000-10696000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr8:10691000-10696000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:10691000-10696000	Weak transcription	HSMMtube	muscle
27	chr8:10691000-10696000	Weak transcription	Osteobl	bone
28	chr8:10691000-10696200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr8:10691000-10696200	Weak transcription	Brain Angular Gyrus	brain
30	chr8:10691200-10695400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:10691400-10696000	Weak transcription	Brain Substantia Nigra	brain
32	chr8:10691400-10696000	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:10691400-10696200	Weak transcription	Fetal Intestine Small	intestine
34	chr8:10691400-10696600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:10691400-10696600	Weak transcription	Small Intestine	intestine
36	chr8:10691600-10696200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:10691600-10696600	Weak transcription	Aorta	Aorta
38	chr8:10691800-10693800	Weak transcription	GM12878-XiMat	blood
39	chr8:10691800-10694400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:10691800-10695200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:10691800-10696000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:10691800-10696000	Weak transcription	Fetal Stomach	stomach
43	chr8:10691800-10696200	Weak transcription	Placenta	Placenta
44	chr8:10691800-10696600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:10691800-10696600	Weak transcription	Lung	lung
46	chr8:10691800-10696600	Weak transcription	Ovary	ovary
47	chr8:10692000-10693600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:10692000-10693800	Weak transcription	Pancreas	Pancrea
49	chr8:10692000-10694200	Weak transcription	Psoas Muscle	Psoas
50	chr8:10692000-10694600	Weak transcription	Rectal Mucosa Donor 31	rectum

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