Variant report

Variant	rs28626408
Chromosome Location	chr8:42917368-42917369
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:42914214..42918635-chr8:42925467..42929517,5	K562	blood:
2	chr8:42915452..42917620-chr8:42917679..42921243,3	MCF-7	breast:
3	chr8:42909926..42914066-chr8:42914793..42919017,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200731	Chromatin interaction
ENSG00000168522	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10095511	0.81[ASN][1000 genomes]
rs10111452	0.90[ASN][1000 genomes]
rs10435641	0.83[ASN][1000 genomes]
rs10448065	0.83[ASN][1000 genomes]
rs10808963	0.83[ASN][1000 genomes]
rs10958736	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10958737	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10958738	0.83[ASN][1000 genomes]
rs10958739	0.83[ASN][1000 genomes]
rs1129987	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11781737	0.82[ASN][1000 genomes]
rs11987795	0.84[ASN][1000 genomes]
rs12056606	0.83[ASN][1000 genomes]
rs12549718	0.82[ASN][1000 genomes]
rs13256745	0.83[ASN][1000 genomes]
rs13261180	0.85[ASN][1000 genomes]
rs13280254	0.80[ASN][1000 genomes]
rs1648121	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2042674	0.85[ASN][1000 genomes]
rs2376489	0.85[ASN][1000 genomes]
rs2376490	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2692077	0.89[AMR][1000 genomes]
rs34826093	0.81[ASN][1000 genomes]
rs3739431	0.84[ASN][1000 genomes]
rs3867147	0.82[ASN][1000 genomes]
rs4236927	0.98[ASN][1000 genomes]
rs4272427	0.84[ASN][1000 genomes]
rs4294230	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4512420	0.88[ASN][1000 genomes]
rs4523300	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4559283	0.83[ASN][1000 genomes]
rs4623474	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4736844	0.88[ASN][1000 genomes]
rs4737087	0.83[ASN][1000 genomes]
rs4737088	0.82[ASN][1000 genomes]
rs6474429	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6993615	0.81[AFR][1000 genomes]
rs7001861	0.99[ASN][1000 genomes]
rs7016673	0.94[ASN][1000 genomes]
rs7463608	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs773068	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs773069	0.84[AMR][1000 genomes]
rs773071	0.87[AMR][1000 genomes]
rs7819737	0.98[ASN][1000 genomes]
rs7829140	0.82[ASN][1000 genomes]
rs7838753	0.81[ASN][1000 genomes]
rs7838899	0.91[AMR][1000 genomes]
rs7839805	0.83[ASN][1000 genomes]
rs9298632	0.82[ASN][1000 genomes]
rs9657192	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv429912	chr8:42852444-43701143	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv869499	chr8:42858608-43541986	Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv916847	chr8:42858611-43541984	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1027779	chr8:42863024-43729296	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv1025336	chr8:42905623-43333638	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
13	nsv539564	chr8:42905623-43333638	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
14	nsv831302	chr8:42909483-43105520	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 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	chr8:42912800-42918000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:42912800-42918600	Weak transcription	Fetal Kidney	kidney
3	chr8:42912800-42920400	Weak transcription	Aorta	Aorta
4	chr8:42912800-42924200	Weak transcription	Gastric	stomach
5	chr8:42912800-42924600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:42912800-42936000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:42912800-42936600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:42912800-42943800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:42912800-42948000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:42913000-42917800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:42913000-42917800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:42913000-42919000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:42913000-42920200	Weak transcription	HSMMtube	muscle
14	chr8:42913000-42920400	Weak transcription	Left Ventricle	heart
15	chr8:42913000-42920400	Weak transcription	Right Ventricle	heart
16	chr8:42913000-42924000	Weak transcription	Esophagus	oesophagus
17	chr8:42913000-42924000	Weak transcription	Pancreas	Pancrea
18	chr8:42913000-42924400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:42913000-42924400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:42913000-42924400	Weak transcription	Spleen	Spleen
21	chr8:42913000-42941200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:42913200-42917600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:42913200-42918600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:42913400-42917600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr8:42913400-42917600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:42913400-42917800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:42913400-42917800	Weak transcription	Placenta	Placenta
28	chr8:42913400-42917800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:42913400-42918000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:42913400-42918000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:42913400-42920400	Weak transcription	Colonic Mucosa	Colon
32	chr8:42913600-42917600	Weak transcription	Fetal Thymus	thymus
33	chr8:42913600-42917800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr8:42913600-42917800	Weak transcription	NHEK	skin
35	chr8:42913600-42918000	Weak transcription	Fetal Intestine Small	intestine
36	chr8:42913600-42919200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:42913600-42919600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:42913600-42920400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr8:42913600-42920600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:42913600-42921800	Weak transcription	Psoas Muscle	Psoas
41	chr8:42913600-42940600	Weak transcription	Small Intestine	intestine
42	chr8:42913800-42917600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:42914000-42918000	Weak transcription	Thymus	Thymus
44	chr8:42914400-42917800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:42914400-42917800	Weak transcription	Lung	lung
46	chr8:42914400-42919200	Weak transcription	HUVEC	blood vessel
47	chr8:42914400-42920400	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:42914400-42920600	Weak transcription	Ovary	ovary
49	chr8:42914400-42922800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:42914400-42924800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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