Variant report

Variant	rs28637302
Chromosome Location	chr8:123871111-123871112
allele	C/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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:123685352..123686345-chr8:123870558..123871245,3	MCF-7	breast:
2	chr8:123829836..123831499-chr8:123869849..123871859,2	MCF-7	breast:
3	chr8:123870041..123872035-chr8:123872604..123876366,3	MCF-7	breast:
4	chr8:123692172..123694608-chr8:123870344..123872010,2	MCF-7	breast:
5	chr8:123869249..123871336-chr8:123880778..123882771,2	MCF-7	breast:
6	chr8:123790113..123798511-chr8:123863989..123875403,23	MCF-7	breast:
7	chr8:123855951..123858761-chr8:123870022..123871759,3	MCF-7	breast:
8	chr8:123791121..123796651-chr8:123862934..123872117,20	MCF-7	breast:
9	chr8:123745542..123746482-chr8:123870212..123871337,6	MCF-7	breast:
10	chr8:123745577..123746447-chr8:123870186..123871146,3	MCF-7	breast:
11	chr8:123792221..123793653-chr8:123870175..123871137,5	MCF-7	breast:
12	chr8:123793299..123794235-chr8:123870508..123871170,2	MCF-7	breast:
13	chr8:123791732..123793010-chr8:123870173..123871195,6	MCF-7	breast:
14	chr8:123863748..123865880-chr8:123869827..123871444,2	MCF-7	breast:
15	chr8:123805865..123808753-chr8:123870685..123872889,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272043	Chromatin interaction
ENSG00000272384	Chromatin interaction
ENSG00000178764	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16897571	0.90[EUR][1000 genomes]
rs58533610	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 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	chr8:123830200-123874000	Weak transcription	Colonic Mucosa	Colon
2	chr8:123837400-123876000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:123852000-123873400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:123853800-123873800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:123854000-123874800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:123854200-123875000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:123854400-123874400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr8:123856000-123874800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:123857200-123873800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:123858800-123873600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:123860200-123871200	Weak transcription	Gastric	stomach
12	chr8:123860200-123874600	Weak transcription	Thymus	Thymus
13	chr8:123861000-123888600	Weak transcription	GM12878-XiMat	blood
14	chr8:123863000-123871200	Enhancers	Brain Hippocampus Middle	brain
15	chr8:123863000-123872000	Enhancers	Brain Substantia Nigra	brain
16	chr8:123863400-123871200	Weak transcription	Fetal Intestine Small	intestine
17	chr8:123863600-123874600	Weak transcription	Fetal Brain Male	brain
18	chr8:123864200-123874400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:123864600-123876400	Weak transcription	Fetal Intestine Large	intestine
20	chr8:123865200-123875200	Weak transcription	Fetal Brain Female	brain
21	chr8:123866200-123872000	Enhancers	Psoas Muscle	Psoas
22	chr8:123866200-123874200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:123866600-123875800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:123866800-123871800	Enhancers	Adipose Nuclei	Adipose
25	chr8:123867200-123871600	Enhancers	Stomach Smooth Muscle	stomach
26	chr8:123867200-123871800	Enhancers	Colon Smooth Muscle	Colon
27	chr8:123867200-123872000	Enhancers	Brain Anterior Caudate	brain
28	chr8:123867600-123873400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:123867600-123898000	Weak transcription	Small Intestine	intestine
30	chr8:123868200-123872000	Enhancers	Right Ventricle	heart
31	chr8:123868200-123873600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:123868200-123873600	Weak transcription	HMEC	breast
33	chr8:123868400-123871600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:123868600-123876400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr8:123868800-123871800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:123868800-123871800	Enhancers	Right Atrium	heart
37	chr8:123868800-123872000	Enhancers	Brain Angular Gyrus	brain
38	chr8:123868800-123872000	Enhancers	Left Ventricle	heart
39	chr8:123868800-123873400	Weak transcription	NHEK	skin
40	chr8:123868800-123874000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:123869000-123873200	Weak transcription	NH-A	brain
42	chr8:123869000-123876000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr8:123869000-123888600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:123869200-123871800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:123869200-123872000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr8:123869200-123872200	Enhancers	Brain Cingulate Gyrus	brain
47	chr8:123869200-123872200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr8:123869200-123872400	Enhancers	Brain Germinal Matrix	brain
49	chr8:123869200-123878200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:123869400-123873000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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