Variant report

Variant	rs7834224
Chromosome Location	chr8:20127667-20127668
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20121168..20122676-chr8:20125899..20127872,2	K562	blood:
2	chr8:20117486..20119981-chr8:20127285..20130227,2	K562	blood:

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]
rs34062067	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57127754	1.00[EUR][1000 genomes]
rs57435297	1.00[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]

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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20120600-20132800	Enhancers	Primary T cells fromperipheralblood	blood
2	chr8:20122200-20128600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:20123400-20128600	Flanking Active TSS	Dnd41	blood
4	chr8:20124200-20130000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:20124200-20130600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:20124200-20130800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:20124600-20129000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:20125400-20129800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:20126400-20130400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:20126400-20132400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:20126600-20127800	Enhancers	Gastric	stomach
12	chr8:20126600-20128000	Bivalent Enhancer	Fetal Intestine Large	intestine
13	chr8:20126600-20129600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr8:20126600-20130000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:20126600-20130400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr8:20126600-20131000	Enhancers	Esophagus	oesophagus
17	chr8:20126600-20132200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:20126600-20132400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:20126600-20132600	Enhancers	Placenta	Placenta
20	chr8:20126600-20135200	Weak transcription	Right Ventricle	heart
21	chr8:20126600-20136200	Enhancers	Fetal Thymus	thymus
22	chr8:20126800-20127800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:20126800-20127800	Enhancers	Brain Cingulate Gyrus	brain
24	chr8:20126800-20127800	Enhancers	Ovary	ovary
25	chr8:20126800-20127800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr8:20126800-20128000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr8:20126800-20128400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr8:20126800-20128400	Enhancers	NHEK	skin
29	chr8:20126800-20128800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr8:20126800-20129000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:20126800-20129000	Enhancers	Fetal Lung	lung
32	chr8:20126800-20129600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:20126800-20129800	Enhancers	Brain Anterior Caudate	brain
34	chr8:20126800-20130000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:20126800-20130000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:20126800-20130200	Weak transcription	Spleen	Spleen
37	chr8:20126800-20130400	Enhancers	NHLF	lung
38	chr8:20126800-20130800	Enhancers	HMEC	breast
39	chr8:20126800-20131200	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr8:20126800-20135200	Weak transcription	Lung	lung
41	chr8:20126800-20135200	Weak transcription	Right Atrium	heart
42	chr8:20126800-20135400	Weak transcription	Left Ventricle	heart
43	chr8:20127000-20128400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:20127000-20128400	Enhancers	Fetal Brain Male	brain
45	chr8:20127000-20129000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:20127000-20129200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr8:20127000-20129200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr8:20127000-20129800	Enhancers	H9 Cell Line	embryonic stem cell
49	chr8:20127000-20130200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr8:20127000-20130200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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