Variant report

Variant	rs34062067
Chromosome Location	chr8:20126856-20126857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20112189..20114291-chr8:20125688..20127560,2	K562	blood:
2	chr8:20121168..20122676-chr8:20125899..20127872,2	K562	blood:

Variant related genes	Relation type
ENSG00000061337	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs28368992	1.00[EUR][1000 genomes]
rs28475243	1.00[EUR][1000 genomes]
rs28485611	1.00[EUR][1000 genomes]
rs28552383	1.00[EUR][1000 genomes]
rs28621370	1.00[EUR][1000 genomes]
rs2898498	1.00[EUR][1000 genomes]
rs57127754	1.00[EUR][1000 genomes]
rs57435297	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58835058	1.00[EUR][1000 genomes]
rs6986012	1.00[EUR][1000 genomes]
rs7009375	1.00[EUR][1000 genomes]
rs73669730	1.00[EUR][1000 genomes]
rs73669753	1.00[EUR][1000 genomes]
rs73669754	1.00[EUR][1000 genomes]
rs73669756	1.00[EUR][1000 genomes]
rs7834224	0.98[AFR][1000 genomes];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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr8:20119600-20127000	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr8:20120600-20132800	Enhancers	Primary T cells fromperipheralblood	blood
3	chr8:20122200-20128600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:20122600-20127000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:20122800-20127000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:20123400-20128600	Flanking Active TSS	Dnd41	blood
7	chr8:20124200-20130000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:20124200-20130600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr8:20124200-20130800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:20124600-20129000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:20125000-20127000	Enhancers	Fetal Heart	heart
12	chr8:20125400-20129800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:20125600-20127000	Flanking Active TSS	HSMM	muscle
14	chr8:20125800-20127000	Flanking Active TSS	Fetal Brain Female	brain
15	chr8:20125800-20127000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr8:20125800-20127000	Enhancers	Stomach Mucosa	stomach
17	chr8:20125800-20127000	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr8:20125800-20127000	Flanking Active TSS	HSMMtube	muscle
19	chr8:20125800-20127000	Bivalent Enhancer	HUVEC	blood vessel
20	chr8:20125800-20127000	Flanking Active TSS	Osteobl	bone
21	chr8:20125800-20127200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:20126000-20127000	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr8:20126000-20127000	Active TSS	Colonic Mucosa	Colon
24	chr8:20126000-20127200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:20126000-20127200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr8:20126200-20127000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr8:20126200-20127000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr8:20126200-20127000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:20126200-20127000	Flanking Active TSS	Fetal Brain Male	brain
30	chr8:20126200-20127000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
31	chr8:20126200-20127200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:20126400-20127000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr8:20126400-20130400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:20126400-20132400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:20126600-20127000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
36	chr8:20126600-20127000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr8:20126600-20127000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr8:20126600-20127000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr8:20126600-20127000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:20126600-20127000	Flanking Active TSS	Liver	Liver
41	chr8:20126600-20127000	Enhancers	Fetal Kidney	kidney
42	chr8:20126600-20127000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr8:20126600-20127000	Enhancers	Thymus	Thymus
44	chr8:20126600-20127000	Enhancers	GM12878-XiMat	blood
45	chr8:20126600-20127200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr8:20126600-20127200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:20126600-20127200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:20126600-20127400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:20126600-20127800	Enhancers	Gastric	stomach
50	chr8:20126600-20128000	Bivalent Enhancer	Fetal Intestine Large	intestine

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