Variant report

Variant	rs547112151
Chromosome Location	chr8:59470342-59470343
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:59470291..59472157-chr8:59493284..59495142,2	K562	blood:
2	chr8:59467543..59471548-chr8:59563276..59565061,3	K562	blood:
3	chr8:59434915..59437240-chr8:59469391..59471843,2	MCF-7	breast:
4	chr8:59469692..59471649-chr8:59473194..59476156,2	MCF-7	breast:
5	chr8:59463439..59469524-chr8:59469766..59475373,11	MCF-7	breast:
6	chr8:59464522..59468575-chr8:59469283..59472849,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137575	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3323083	chr8:59469098-59470696	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59465000-59472200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:59466400-59472600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:59466600-59470800	Weak transcription	Lung	lung
4	chr8:59466600-59472600	Weak transcription	Esophagus	oesophagus
5	chr8:59466600-59472600	Weak transcription	Pancreas	Pancrea
6	chr8:59466800-59472400	Weak transcription	Aorta	Aorta
7	chr8:59466800-59472800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:59466800-59479800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:59467000-59472200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:59467000-59472400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:59467000-59472600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:59467000-59472800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:59467200-59486000	Weak transcription	Brain Angular Gyrus	brain
14	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:59467600-59472400	Weak transcription	Fetal Intestine Large	intestine
16	chr8:59467600-59479200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:59467800-59471200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:59467800-59471200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:59467800-59471200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:59467800-59471400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:59467800-59472000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:59468000-59471000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:59468000-59471000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:59468000-59471200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:59468000-59472200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:59468000-59472200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:59468000-59472200	Weak transcription	Brain Germinal Matrix	brain
28	chr8:59468000-59472200	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:59468000-59472600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:59468000-59472800	Weak transcription	Colonic Mucosa	Colon
31	chr8:59468000-59473000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr8:59468000-59475800	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:59468000-59476600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr8:59468000-59479000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr8:59468000-59479600	Weak transcription	HepG2	liver
36	chr8:59468000-59480000	Weak transcription	Brain Substantia Nigra	brain
37	chr8:59468200-59471000	Weak transcription	Right Ventricle	heart
38	chr8:59468200-59471200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:59468200-59471200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr8:59468200-59471200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:59468200-59471400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr8:59468200-59472200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:59468200-59472200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:59468200-59472200	Weak transcription	HSMMtube	muscle
45	chr8:59468200-59472200	Weak transcription	NH-A	brain
46	chr8:59468200-59472400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:59468200-59472400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:59468200-59472400	Weak transcription	Thymus	Thymus
49	chr8:59468200-59474200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:59468200-59480000	Weak transcription	Fetal Kidney	kidney

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