Variant report

Variant	rs184696866
Chromosome Location	chr8:59468690-59468691
allele	A/C
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	chr8:59465077..59468758-chr8:59483246..59485751,3	MCF-7	breast:
4	chr8:59460875..59463855-chr8:59467484..59470107,3	K562	blood:
5	chr8:59430665..59433091-chr8:59466254..59469171,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137575	Chromatin interaction
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	chr8:59466000-59468800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:59466400-59469000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr8:59466400-59470200	Weak transcription	Gastric	stomach
8	chr8:59466400-59472600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:59466600-59468800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:59466600-59470200	Weak transcription	Spleen	Spleen
11	chr8:59466600-59470800	Weak transcription	Lung	lung
12	chr8:59466600-59472600	Weak transcription	Esophagus	oesophagus
13	chr8:59466600-59472600	Weak transcription	Pancreas	Pancrea
14	chr8:59466800-59470200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:59466800-59472400	Weak transcription	Aorta	Aorta
16	chr8:59466800-59472800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:59466800-59479800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:59467000-59472200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:59467000-59472400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:59467000-59472600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:59467000-59472800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:59467200-59468800	Weak transcription	Fetal Stomach	stomach
23	chr8:59467200-59468800	Weak transcription	Stomach Mucosa	stomach
24	chr8:59467200-59469200	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr8:59467200-59469400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:59467200-59486000	Weak transcription	Brain Angular Gyrus	brain
27	chr8:59467400-59468800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:59467600-59469400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr8:59467600-59472400	Weak transcription	Fetal Intestine Large	intestine
31	chr8:59467600-59479200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:59467800-59469200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
33	chr8:59467800-59471200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:59467800-59471200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:59467800-59471200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:59467800-59471400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:59467800-59472000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:59468000-59468800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:59468000-59468800	Weak transcription	Colon Smooth Muscle	Colon
40	chr8:59468000-59468800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:59468000-59468800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:59468000-59469200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr8:59468000-59469200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr8:59468000-59469200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr8:59468000-59469200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr8:59468000-59469200	Enhancers	Fetal Brain Male	brain
47	chr8:59468000-59469400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:59468000-59470200	Weak transcription	A549	lung
49	chr8:59468000-59471000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr8:59468000-59471000	Weak transcription	Placenta Amnion	Placenta Amnion

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