Variant report

Variant	rs2395992
Chromosome Location	chr8:131243092-131243093
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131242903..131244926-chr8:131246268..131247822,2	MCF-7	breast:
2	chr8:131236220..131238731-chr8:131241044..131243639,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10098244	0.80[EUR][1000 genomes]
rs10099820	0.81[ASN][1000 genomes]
rs10103052	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10104573	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10109827	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13267150	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13276034	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2670876	0.80[ASN][1000 genomes]
rs2670881	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2670882	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2670886	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2670887	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2791339	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28413707	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28736405	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28857237	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2994295	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2994296	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4733570	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66513387	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72722357	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7825499	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7836266	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7838372	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131200600-131246600	Weak transcription	Pancreas	Pancrea
2	chr8:131209600-131261200	Weak transcription	Esophagus	oesophagus
3	chr8:131210000-131250400	Weak transcription	Gastric	stomach
4	chr8:131214000-131255800	Weak transcription	Brain Angular Gyrus	brain
5	chr8:131214400-131257000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:131217000-131260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:131217600-131246400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:131219000-131255000	Weak transcription	Thymus	Thymus
9	chr8:131219200-131246800	Weak transcription	Fetal Thymus	thymus
10	chr8:131219200-131248000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:131219800-131247800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:131220000-131254800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:131220000-131255000	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:131220200-131248000	Weak transcription	Brain Anterior Caudate	brain
15	chr8:131225200-131245400	Weak transcription	Dnd41	blood
16	chr8:131225200-131246200	Weak transcription	Adipose Nuclei	Adipose
17	chr8:131225200-131250200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:131225200-131253400	Weak transcription	Right Ventricle	heart
19	chr8:131225800-131274800	Weak transcription	Hela-S3	cervix
20	chr8:131226200-131245200	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:131226200-131248000	Weak transcription	Psoas Muscle	Psoas
22	chr8:131226200-131251600	Weak transcription	K562	blood
23	chr8:131226400-131244000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:131226400-131246600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:131226600-131245200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:131226800-131244000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:131227000-131245600	Weak transcription	Placenta	Placenta
28	chr8:131227000-131246200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:131227000-131246400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:131227200-131246600	Weak transcription	HepG2	liver
31	chr8:131227200-131251200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:131229400-131251600	Weak transcription	Aorta	Aorta
33	chr8:131230600-131245400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:131232200-131244000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:131232200-131246600	Weak transcription	Spleen	Spleen
36	chr8:131232200-131257000	Weak transcription	Lung	lung
37	chr8:131232400-131261200	Weak transcription	Fetal Stomach	stomach
38	chr8:131233600-131245000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:131233600-131248200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:131234000-131245600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr8:131234200-131244400	Weak transcription	Primary B cells from cord blood	blood
42	chr8:131234200-131248000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:131234200-131248600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr8:131234400-131245400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr8:131234600-131255600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr8:131234800-131244000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:131234800-131255600	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:131235000-131244000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:131235200-131243400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:131236400-131243800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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