Variant report

Variant	rs2514567
Chromosome Location	chr8:96222002-96222003
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96212357..96216108-chr8:96221721..96225402,5	MCF-7	breast:
2	chr8:96221802..96225274-chr8:96226379..96230011,4	K562	blood:
3	chr8:96183340..96184864-chr8:96221923..96223784,2	MCF-7	breast:
4	chr8:96220160..96222982-chr8:96225240..96226907,2	K562	blood:
5	chr8:96221874..96223119-chr8:96235797..96236784,7	MCF-7	breast:
6	chr8:96221874..96223119-chr8:96235797..96236697,5	MCF-7	breast:
7	chr8:96202933..96207621-chr8:96217016..96224905,7	MCF-7	breast:
8	chr8:96217038..96220399-chr8:96221117..96225068,5	MCF-7	breast:
9	chr8:96221181..96226002-chr8:96248062..96252220,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253351	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13273059	0.96[ASN][1000 genomes]
rs2439642	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514565	0.91[ASN][1000 genomes]
rs4735356	0.83[ASN][1000 genomes]
rs732068	0.81[ASN][1000 genomes]
rs880641	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs880642	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised 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	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv523655	chr8:96205920-96239113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv16466	chr8:96206151-96243934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv516035	chr8:96208726-96235451	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv465740	chr8:96211820-96235451	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv611758	chr8:96211820-96235451	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv6315	chr8:96216465-96261671	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv465741	chr8:96221122-96247835	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv611759	chr8:96221122-96247835	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96214200-96226400	Weak transcription	Right Atrium	heart
2	chr8:96214400-96233400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:96218800-96227000	Enhancers	Pancreas	Pancrea
4	chr8:96219400-96222400	Enhancers	Placenta	Placenta
5	chr8:96219400-96229600	Enhancers	Fetal Thymus	thymus
6	chr8:96219800-96225600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:96219800-96251800	Enhancers	Primary B cells from peripheral blood	blood
8	chr8:96220000-96223200	Enhancers	Fetal Muscle Leg	muscle
9	chr8:96220000-96224200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr8:96220000-96227200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:96220200-96223000	Weak transcription	Spleen	Spleen
12	chr8:96220200-96225600	Enhancers	K562	blood
13	chr8:96220600-96222400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr8:96220600-96222800	Enhancers	Lung	lung
15	chr8:96220600-96223400	Weak transcription	HMEC	breast
16	chr8:96220600-96229400	Enhancers	Primary hematopoietic stem cells	blood
17	chr8:96220800-96224600	Weak transcription	Esophagus	oesophagus
18	chr8:96220800-96226000	Weak transcription	Right Ventricle	heart
19	chr8:96220800-96226400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:96220800-96228000	Enhancers	Thymus	Thymus
21	chr8:96220800-96229600	Enhancers	Primary B cells from cord blood	blood
22	chr8:96221000-96222600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:96221000-96228400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr8:96221200-96224800	Enhancers	Liver	Liver
25	chr8:96221200-96228800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr8:96221400-96222200	Enhancers	HepG2	liver
27	chr8:96221400-96223400	Enhancers	Gastric	stomach
28	chr8:96221400-96223600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:96221400-96226000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:96221400-96226200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:96221600-96222600	Weak transcription	Left Ventricle	heart
32	chr8:96221600-96224200	Weak transcription	GM12878-XiMat	blood
33	chr8:96221800-96224000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:96221800-96225200	Enhancers	Stomach Mucosa	stomach
35	chr8:96221800-96226200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr8:96222000-96222200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr8:96222000-96223600	Enhancers	Fetal Intestine Small	intestine
38	chr8:96222000-96223800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr8:96222000-96224200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr8:96222000-96228400	Enhancers	Primary T cells from cord blood	blood

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