Variant report

Variant	rs554257486
Chromosome Location	chr8:59468814-59468815
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:59467543..59471548-chr8:59563276..59565061,3	K562	blood:
2	chr8:59466189..59470274-chr8:59507050..59509287,3	MCF-7	breast:
3	chr8:59460875..59463855-chr8:59467484..59470107,3	K562	blood:
4	chr8:59430665..59433091-chr8:59466254..59469171,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000035681	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv3348121	chr8:59468648-59471021	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59465000-59469200	Active TSS	Fetal Brain Female	brain
2	chr8:59465000-59472200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:59465400-59469000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:59465600-59469000	Active TSS	Stomach Smooth Muscle	stomach
5	chr8:59466400-59469000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr8:59466400-59470200	Weak transcription	Gastric	stomach
7	chr8:59466400-59472600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:59466600-59470200	Weak transcription	Spleen	Spleen
9	chr8:59466600-59470800	Weak transcription	Lung	lung
10	chr8:59466600-59472600	Weak transcription	Esophagus	oesophagus
11	chr8:59466600-59472600	Weak transcription	Pancreas	Pancrea
12	chr8:59466800-59470200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:59466800-59472400	Weak transcription	Aorta	Aorta
14	chr8:59466800-59472800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:59466800-59479800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:59467000-59472200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:59467000-59472400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:59467000-59472600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:59467000-59472800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:59467200-59469200	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr8:59467200-59469400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:59467200-59486000	Weak transcription	Brain Angular Gyrus	brain
23	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:59467600-59469400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr8:59467600-59472400	Weak transcription	Fetal Intestine Large	intestine
26	chr8:59467600-59479200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:59467800-59469200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
28	chr8:59467800-59471200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:59467800-59471200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:59467800-59471200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:59467800-59471400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:59467800-59472000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:59468000-59469200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr8:59468000-59469200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr8:59468000-59469200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr8:59468000-59469200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr8:59468000-59469200	Enhancers	Fetal Brain Male	brain
38	chr8:59468000-59469400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr8:59468000-59470200	Weak transcription	A549	lung
40	chr8:59468000-59471000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr8:59468000-59471000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr8:59468000-59471200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:59468000-59472200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:59468000-59472200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:59468000-59472200	Weak transcription	Brain Germinal Matrix	brain
46	chr8:59468000-59472200	Weak transcription	Fetal Muscle Leg	muscle
47	chr8:59468000-59472600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:59468000-59472800	Weak transcription	Colonic Mucosa	Colon
49	chr8:59468000-59473000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr8:59468000-59475800	Weak transcription	Brain Hippocampus Middle	brain

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