Variant report

Variant	rs28649568
Chromosome Location	chr8:8959671-8959672
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8958264..8961787-chr8:8977169..8981598,5	MCF-7	breast:
2	chr8:8957620..8959986-chr8:9006127..9008421,2	MCF-7	breast:
3	chr8:8952658..8954471-chr8:8958046..8960043,2	K562	blood:
4	chr8:8951477..8953805-chr8:8956815..8960105,3	MCF-7	breast:
5	chr8:8959541..8961848-chr8:8965504..8968046,3	K562	blood:

Variant related genes	Relation type
ENSG00000173281	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10081437	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13248595	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv523098	chr8:8944307-8982396	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv526092	chr8:8944307-8982396	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1022328	chr8:8954003-9061281	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs28649568	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs28649568	THEX1	Cis_1M	lymphoblastoid	RTeQTL
rs28649568	RP11-62H7.2	cis	Thyroid	GTEx
rs28649568	C8orf5	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8954200-8960400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:8954200-8960800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:8954600-8961800	Weak transcription	Lung	lung
4	chr8:8955200-8962000	Weak transcription	Gastric	stomach
5	chr8:8956800-8968000	Enhancers	Fetal Intestine Large	intestine
6	chr8:8957200-8963800	Enhancers	Fetal Intestine Small	intestine
7	chr8:8957800-8960000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr8:8958200-8963800	Enhancers	Stomach Mucosa	stomach
9	chr8:8958800-8960000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:8958800-8960800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:8958800-8960800	Enhancers	Colonic Mucosa	Colon
12	chr8:8958800-8960800	Enhancers	Fetal Lung	lung
13	chr8:8959000-8959800	Enhancers	Small Intestine	intestine
14	chr8:8959000-8963400	Enhancers	Liver	Liver
15	chr8:8959200-8959800	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr8:8959200-8959800	Enhancers	A549	lung
17	chr8:8959200-8960000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:8959200-8960200	Flanking Active TSS	Fetal Heart	heart
19	chr8:8959200-8960400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:8959200-8960400	Bivalent Enhancer	HepG2	liver
21	chr8:8959200-8962600	Enhancers	Fetal Muscle Leg	muscle
22	chr8:8959400-8960400	Enhancers	Aorta	Aorta
23	chr8:8959400-8960800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:8959400-8960800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr8:8959400-8960800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr8:8959400-8961000	Enhancers	Left Ventricle	heart
27	chr8:8959400-8961000	Enhancers	Right Ventricle	heart
28	chr8:8959400-8961200	Enhancers	K562	blood
29	chr8:8959400-8962200	Enhancers	Pancreas	Pancrea
30	chr8:8959600-8959800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr8:8959600-8960000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:8959600-8960200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr8:8959600-8960200	Enhancers	Fetal Thymus	thymus
34	chr8:8959600-8960200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr8:8959600-8960800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr8:8959600-8960800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:8959600-8961000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr8:8959600-8963400	Enhancers	Placenta Amnion	Placenta Amnion

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