Variant report

Variant	rs13270521
Chromosome Location	chr8:104408989-104408990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104406779..104409163-chr8:104411482..104415140,4	K562	blood:
2	chr8:104406121..104412447-chr8:104425150..104430479,11	MCF-7	breast:
3	chr8:104406510..104409237-chr8:104409737..104411848,2	MCF-7	breast:
4	chr8:104408959..104409520-chr8:104426871..104427515,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164933	Chromatin interaction
ENSG00000164934	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10093237	0.91[AMR][1000 genomes]
rs10103739	0.95[AMR][1000 genomes]
rs28630640	0.95[AMR][1000 genomes]
rs28811720	0.91[AMR][1000 genomes]
rs35500845	0.95[AMR][1000 genomes]
rs71520812	0.95[AMR][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	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1033477	chr8:104369940-104439632	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv539706	chr8:104369940-104439632	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1034183	chr8:104369940-104814008	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv539707	chr8:104369940-104814008	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv611832	chr8:104400808-104481735	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	esv2753239	chr8:104404824-104545824	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104384400-104412200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:104384600-104409400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:104384600-104418600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:104385000-104415600	Weak transcription	Placenta	Placenta
5	chr8:104385600-104423600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:104385600-104424600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:104385800-104409000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:104385800-104409000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:104386000-104409800	Weak transcription	NHLF	lung
10	chr8:104386000-104418600	Weak transcription	Aorta	Aorta
11	chr8:104386000-104425600	Weak transcription	HSMMtube	muscle
12	chr8:104388200-104412200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:104393200-104423600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:104393600-104409800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr8:104394800-104421800	Weak transcription	Small Intestine	intestine
16	chr8:104397400-104412400	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:104398200-104409200	Weak transcription	Thymus	Thymus
18	chr8:104398600-104413000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:104399400-104412200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:104400000-104426000	Weak transcription	Stomach Mucosa	stomach
21	chr8:104400200-104425600	Weak transcription	Colonic Mucosa	Colon
22	chr8:104400400-104410000	Weak transcription	Psoas Muscle	Psoas
23	chr8:104400600-104410800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:104400600-104422400	Weak transcription	Lung	lung
25	chr8:104400800-104409600	Weak transcription	Hela-S3	cervix
26	chr8:104400800-104410600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr8:104400800-104410800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:104400800-104412200	Weak transcription	Fetal Lung	lung
29	chr8:104400800-104412400	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:104400800-104418600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:104401000-104409200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:104401000-104409200	Weak transcription	HSMM	muscle
33	chr8:104401000-104409400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:104401000-104410000	Weak transcription	Right Ventricle	heart
35	chr8:104401000-104410200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr8:104401000-104411800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:104401000-104412200	Weak transcription	Fetal Kidney	kidney
38	chr8:104401000-104413000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr8:104401000-104413000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:104401200-104409200	Weak transcription	Dnd41	blood
41	chr8:104401200-104409800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:104401200-104409800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:104401200-104410400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:104401200-104412000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:104401400-104409200	Weak transcription	Fetal Thymus	thymus
46	chr8:104401400-104410400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr8:104401400-104412200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:104401600-104409400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:104401600-104426600	Weak transcription	Esophagus	oesophagus
50	chr8:104401800-104412400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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