Variant report

Variant	rs13251015
Chromosome Location	chr8:11315048-11315049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11304077..11306061-chr8:11313210..11316017,2	K562	blood:
2	chr8:11273893..11276099-chr8:11313214..11316137,2	MCF-7	breast:
3	chr8:11312570..11318244-chr8:11320573..11323970,6	K562	blood:
4	chr8:11313214..11317170-chr8:11317580..11320923,5	K562	blood:
5	chr8:11313788..11316536-chr8:11322548..11325766,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154319	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10903338	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11785710	0.81[ASN][1000 genomes]
rs12543308	0.82[EUR][1000 genomes]
rs13253092	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2409766	0.84[EUR][1000 genomes]
rs28700987	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4840561	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4841540	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4841542	0.83[ASN][1000 genomes]
rs6982606	0.83[AFR][1000 genomes]
rs6984212	0.91[AFR][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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv890357	chr8:11286146-11330364	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1030756	chr8:11292073-11332782	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3443447	chr8:11310642-11315840	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3438005	chr8:11313367-11315915	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11296200-11319200	Enhancers	Fetal Thymus	thymus
2	chr8:11303600-11323200	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr8:11307200-11322000	Weak transcription	HSMMtube	muscle
4	chr8:11307600-11319800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:11308800-11316600	Enhancers	Primary T cells from cord blood	blood
6	chr8:11310400-11316400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:11310800-11316200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr8:11311200-11316200	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr8:11311200-11317000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr8:11311200-11317200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:11311400-11315200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:11311600-11316600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr8:11312400-11315400	Enhancers	Right Ventricle	heart
14	chr8:11312400-11316400	Enhancers	Stomach Mucosa	stomach
15	chr8:11312800-11315200	Enhancers	Esophagus	oesophagus
16	chr8:11312800-11315400	Enhancers	Lung	lung
17	chr8:11312800-11318600	Weak transcription	Fetal Brain Female	brain
18	chr8:11313000-11315400	Enhancers	Pancreas	Pancrea
19	chr8:11313000-11318000	Weak transcription	Brain Germinal Matrix	brain
20	chr8:11313200-11316600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:11313400-11316000	Enhancers	Colonic Mucosa	Colon
22	chr8:11313400-11323000	Enhancers	Primary B cells from cord blood	blood
23	chr8:11313600-11315200	Enhancers	Left Ventricle	heart
24	chr8:11313600-11316400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:11313600-11316800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:11313600-11317400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr8:11313600-11318200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:11313600-11320200	Enhancers	Brain Hippocampus Middle	brain
29	chr8:11313800-11315200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr8:11313800-11315600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:11313800-11315600	Enhancers	Dnd41	blood
32	chr8:11313800-11316400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:11314000-11315200	Enhancers	Duodenum Mucosa	Duodenum
34	chr8:11314000-11315400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr8:11314000-11315400	Enhancers	Gastric	stomach
36	chr8:11314000-11315600	Enhancers	Spleen	Spleen
37	chr8:11314000-11318000	Weak transcription	Fetal Brain Male	brain
38	chr8:11314000-11319000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:11314200-11315200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:11314200-11315200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr8:11314200-11315600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:11314200-11315600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr8:11314200-11316200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:11314200-11316200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr8:11314200-11316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:11314200-11319400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:11314200-11323200	Weak transcription	Right Atrium	heart
48	chr8:11314600-11315400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr8:11314600-11316000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:11314600-11316000	Enhancers	Liver	Liver

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