Variant report

Variant	rs57435297
Chromosome Location	chr8:20125172-20125173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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]
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	1.00[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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20108400-20125200	Weak transcription	Fetal Intestine Small	intestine
2	chr8:20117200-20126000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:20117600-20125200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:20118400-20126200	Enhancers	Fetal Lung	lung
5	chr8:20118400-20126200	Enhancers	Fetal Thymus	thymus
6	chr8:20119000-20126200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:20119600-20127000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr8:20119800-20125200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:20120200-20125200	Weak transcription	Brain Angular Gyrus	brain
10	chr8:20120400-20126000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr8:20120600-20126000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:20120600-20126000	Weak transcription	Brain Substantia Nigra	brain
13	chr8:20120600-20132800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr8:20121000-20126200	Enhancers	Placenta	Placenta
15	chr8:20121200-20126000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:20121400-20125600	Weak transcription	Colonic Mucosa	Colon
17	chr8:20121400-20125800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:20121600-20125400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:20121600-20126000	Enhancers	NHLF	lung
20	chr8:20121600-20126200	Weak transcription	Fetal Kidney	kidney
21	chr8:20121800-20125800	Enhancers	NHDF-Ad	bronchial
22	chr8:20121800-20126000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:20121800-20126200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr8:20122000-20125400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr8:20122200-20125800	Weak transcription	Spleen	Spleen
26	chr8:20122200-20128600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:20122400-20125400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:20122400-20126000	Enhancers	Thymus	Thymus
29	chr8:20122600-20125400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr8:20122600-20125800	Weak transcription	Liver	Liver
31	chr8:20122600-20125800	Weak transcription	Colon Smooth Muscle	Colon
32	chr8:20122600-20127000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr8:20122800-20125600	Weak transcription	Small Intestine	intestine
34	chr8:20122800-20125800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:20122800-20125800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr8:20122800-20126000	Weak transcription	Left Ventricle	heart
37	chr8:20122800-20126200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:20122800-20126200	Enhancers	Fetal Stomach	stomach
39	chr8:20122800-20126400	Weak transcription	Lung	lung
40	chr8:20122800-20127000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr8:20123000-20125800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:20123000-20125800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:20123000-20126000	Weak transcription	Right Atrium	heart
44	chr8:20123000-20126200	Weak transcription	Esophagus	oesophagus
45	chr8:20123000-20126200	Weak transcription	Gastric	stomach
46	chr8:20123200-20125400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr8:20123200-20125800	Enhancers	HSMMtube	muscle
48	chr8:20123400-20125200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr8:20123400-20125200	Weak transcription	NH-A	brain
50	chr8:20123400-20126000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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