Variant report

Variant	rs12545398
Chromosome Location	chr8:10709904-10709905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10694766..10696620-chr8:10707984..10711858,3	K562	blood:
2	chr8:10704113..10707157-chr8:10708528..10711302,3	K562	blood:
3	chr8:10698588..10701340-chr8:10707877..10710220,2	MCF-7	breast:
4	chr8:10421700..10424416-chr8:10707916..10710717,2	K562	blood:
5	chr8:10700359..10702352-chr8:10709225..10710771,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11779336	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs11787390	0.83[EUR][1000 genomes]
rs17152542	0.81[CEU][hapmap]
rs17152623	0.85[EUR][1000 genomes]
rs17721760	0.81[EUR][1000 genomes]
rs17777835	0.80[ASN][1000 genomes]
rs28706358	0.85[EUR][1000 genomes]
rs4840518	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs4841455	0.91[CEU][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs73533521	0.85[EUR][1000 genomes]
rs73533523	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
8	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10707600-10711600	Bivalent Enhancer	Fetal Brain Male	brain
2	chr8:10708200-10710200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr8:10708600-10712200	Weak transcription	NHEK	skin
4	chr8:10708600-10712800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:10708600-10713200	Weak transcription	Brain Angular Gyrus	brain
6	chr8:10708600-10715400	Weak transcription	Right Atrium	heart
7	chr8:10708800-10710000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr8:10708800-10710000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr8:10708800-10710200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr8:10708800-10710800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:10708800-10712200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:10708800-10712200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:10708800-10712800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:10708800-10712800	Weak transcription	HMEC	breast
15	chr8:10709000-10710000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr8:10709200-10710000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr8:10709200-10710000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:10709200-10710000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr8:10709200-10710200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
20	chr8:10709200-10710200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
21	chr8:10709200-10710200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr8:10709400-10710000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:10709400-10712200	Weak transcription	Brain Anterior Caudate	brain
24	chr8:10709600-10710000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:10709600-10710000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:10709600-10720400	Weak transcription	Pancreas	Pancrea
27	chr8:10709800-10710000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr8:10709800-10710200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:10709800-10710200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell

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