Variant report

Variant	rs28491737
Chromosome Location	chr8:131207574-131207575
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131207362..131209756-chr8:131210863..131213512,2	MCF-7	breast:
2	chr8:131187972..131189783-chr8:131206468..131207978,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10085959	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10091450	0.85[AFR][1000 genomes]
rs10097893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11988989	0.82[AFR][1000 genomes]
rs16904207	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs16904211	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2554369	0.81[AFR][1000 genomes]
rs2670888	0.80[AFR][1000 genomes]
rs2791338	0.83[AFR][1000 genomes]
rs28495072	0.83[AFR][1000 genomes]
rs28620907	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2943086	0.82[AFR][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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131171000-131208600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:131172200-131211600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:131172800-131210800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:131179000-131208600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:131179200-131208600	Weak transcription	Fetal Brain Female	brain
6	chr8:131179600-131218400	Weak transcription	Thymus	Thymus
7	chr8:131179800-131207800	Weak transcription	Brain Germinal Matrix	brain
8	chr8:131181000-131208600	Weak transcription	Right Ventricle	heart
9	chr8:131181000-131224600	Weak transcription	Hela-S3	cervix
10	chr8:131181200-131229000	Weak transcription	Aorta	Aorta
11	chr8:131187800-131209000	Weak transcription	Fetal Stomach	stomach
12	chr8:131195000-131224200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:131195200-131212400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:131199200-131208600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:131199200-131210600	Weak transcription	Fetal Intestine Small	intestine
16	chr8:131199200-131216800	Weak transcription	Stomach Mucosa	stomach
17	chr8:131199200-131229200	Weak transcription	Fetal Lung	lung
18	chr8:131199400-131207800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:131200200-131212600	Weak transcription	Liver	Liver
20	chr8:131200600-131207800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:131200600-131207800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:131200600-131211000	Weak transcription	Adipose Nuclei	Adipose
23	chr8:131200600-131215600	Weak transcription	Fetal Muscle Leg	muscle
24	chr8:131200600-131218400	Weak transcription	HepG2	liver
25	chr8:131200600-131224600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:131200600-131224800	Weak transcription	Placenta	Placenta
27	chr8:131200600-131246600	Weak transcription	Pancreas	Pancrea
28	chr8:131200800-131208600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:131200800-131209200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:131200800-131209200	Weak transcription	Spleen	Spleen
31	chr8:131203200-131208200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr8:131203400-131208000	Enhancers	HSMM	muscle
33	chr8:131204800-131207800	Enhancers	Ovary	ovary
34	chr8:131204800-131208200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr8:131205000-131208000	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:131205000-131208200	Weak transcription	Brain Angular Gyrus	brain
37	chr8:131205000-131208600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:131205200-131215400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:131205600-131208400	Enhancers	HMEC	breast
40	chr8:131205800-131207600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:131205800-131208000	Enhancers	Primary T cells from cord blood	blood
42	chr8:131205800-131208000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:131205800-131209200	Enhancers	HUVEC	blood vessel
44	chr8:131205800-131209200	Enhancers	NHEK	skin
45	chr8:131206000-131207800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr8:131206000-131207800	Enhancers	Primary T cells fromperipheralblood	blood
47	chr8:131206000-131207800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr8:131206000-131207800	Enhancers	K562	blood
49	chr8:131206000-131208000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr8:131206000-131208000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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