Variant report

Variant	rs882447
Chromosome Location	chr8:130998412-130998413
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130994427..130996216-chr8:130998124..131000537,2	MCF-7	breast:
2	chr8:130996925..130998430-chr8:131034711..131036563,2	MCF-7	breast:
3	chr8:130996585..131001100-chr8:131002410..131006763,8	K562	blood:
4	chr8:130950694..130953984-chr8:130995818..130999558,3	MCF-7	breast:
5	chr8:130994958..130999216-chr8:131005349..131009996,7	MCF-7	breast:
6	chr8:130996752..130999185-chr8:131000348..131002341,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253720	Chromatin interaction
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10100858	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956506	0.81[ASN][1000 genomes]
rs13271197	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16904184	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16904185	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1812141	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2065409	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2065410	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2395952	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34112957	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35782876	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733755	0.85[ASN][1000 genomes]
rs4733756	0.83[ASN][1000 genomes]
rs62524593	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs874580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874581	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874582	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs921693	0.91[ASN][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	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS 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	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130986200-131003600	Weak transcription	Thymus	Thymus
2	chr8:130989200-131000000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:130993400-131000200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:130994200-130999200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:130994800-131001000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr8:130994800-131001600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr8:130995800-130999200	Enhancers	Gastric	stomach
8	chr8:130995800-130999600	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr8:130995800-131000200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:130996000-130999000	Enhancers	Stomach Mucosa	stomach
11	chr8:130996000-131001400	Enhancers	Duodenum Mucosa	Duodenum
12	chr8:130996000-131001600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr8:130996200-130999400	Enhancers	Primary B cells from cord blood	blood
14	chr8:130996200-130999600	Strong transcription	Primary T cells from cord blood	blood
15	chr8:130996200-130999600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr8:130996200-131000600	Enhancers	Lung	lung
17	chr8:130996200-131000800	Enhancers	Spleen	Spleen
18	chr8:130996400-130999600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr8:130996400-130999800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr8:130996600-130998600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:130996600-130998800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:130996600-130998800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:130996600-130999200	Enhancers	Primary T cells fromperipheralblood	blood
24	chr8:130996600-130999400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:130996600-130999600	Enhancers	Adipose Nuclei	Adipose
26	chr8:130996600-130999600	Enhancers	HMEC	breast
27	chr8:130996600-131000000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:130996600-131000600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:130996600-131009600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr8:130996600-131017400	Weak transcription	Fetal Intestine Small	intestine
31	chr8:130996800-130998600	Enhancers	Hela-S3	cervix
32	chr8:130996800-131000600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:130996800-131001800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:130996800-131004000	Weak transcription	K562	blood
35	chr8:130996800-131011600	Weak transcription	Left Ventricle	heart
36	chr8:130997000-130998600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr8:130997000-130998800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:130997000-130999200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr8:130997000-130999400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr8:130997000-130999400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:130997000-130999400	Enhancers	A549	lung
42	chr8:130997000-130999600	Weak transcription	Right Ventricle	heart
43	chr8:130997000-131000000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:130997000-131000000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:130997000-131000600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr8:130997000-131000600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:130997000-131000800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr8:130997000-131000800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:130997000-131001800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr8:130997000-131004000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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