Variant report

Variant	rs114723942
Chromosome Location	chr8:125699433-125699434
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125662479..125664337-chr8:125697312..125699450,2	MCF-7	breast:
2	chr8:125698153..125699926-chr8:125701399..125703514,2	MCF-7	breast:
3	chr8:125692471..125696543-chr8:125697551..125702907,8	MCF-7	breast:
4	chr8:125695412..125697895-chr8:125698374..125700260,3	K562	blood:
5	chr8:125691541..125693410-chr8:125699337..125702160,2	K562	blood:
6	chr8:125697915..125700956-chr8:125703472..125706654,3	K562	blood:
7	chr8:125697510..125699727-chr8:125700656..125702402,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	esv1795075	chr8:125692343-125713791	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv3371789	chr8:125698371-125702569	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125681200-125701000	Weak transcription	HMEC	breast
2	chr8:125686200-125699600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:125686800-125699600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr8:125688200-125699600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:125694200-125701400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr8:125694400-125703000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:125694600-125701600	Enhancers	Fetal Stomach	stomach
8	chr8:125695000-125702200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:125695000-125704800	Weak transcription	Gastric	stomach
10	chr8:125695200-125700400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:125695800-125699600	Enhancers	Brain Substantia Nigra	brain
12	chr8:125696200-125700200	Weak transcription	Small Intestine	intestine
13	chr8:125696200-125700400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:125696200-125705000	Weak transcription	Esophagus	oesophagus
15	chr8:125696600-125699800	Weak transcription	HSMMtube	muscle
16	chr8:125696600-125700600	Weak transcription	NHEK	skin
17	chr8:125696800-125702600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:125696800-125702800	Enhancers	Fetal Heart	heart
19	chr8:125697000-125700200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:125697000-125700400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:125697000-125701000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:125697200-125700400	Enhancers	Fetal Brain Male	brain
23	chr8:125697200-125701400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:125697600-125699600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:125697600-125699800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:125697600-125700400	Enhancers	Left Ventricle	heart
27	chr8:125697600-125700400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:125697600-125701200	Enhancers	HUVEC	blood vessel
29	chr8:125697600-125703000	Enhancers	Primary B cells from peripheral blood	blood
30	chr8:125697600-125703000	Enhancers	Fetal Muscle Leg	muscle
31	chr8:125697800-125700800	Enhancers	Right Atrium	heart
32	chr8:125697800-125704000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:125698000-125699600	Enhancers	Liver	Liver
34	chr8:125698000-125699600	Enhancers	Fetal Lung	lung
35	chr8:125698000-125700400	Enhancers	Fetal Muscle Trunk	muscle
36	chr8:125698000-125700600	Enhancers	Pancreas	Pancrea
37	chr8:125698000-125701000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:125698200-125699600	Enhancers	Primary T cells fromperipheralblood	blood
39	chr8:125698200-125699600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr8:125698200-125700000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr8:125698200-125700400	Enhancers	NHDF-Ad	bronchial
42	chr8:125698200-125700600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:125698200-125701000	Enhancers	Adipose Nuclei	Adipose
44	chr8:125698200-125701400	Enhancers	Placenta	Placenta
45	chr8:125698200-125703000	Enhancers	Fetal Thymus	thymus
46	chr8:125698400-125699600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:125698400-125699600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:125698400-125699600	Enhancers	Brain Hippocampus Middle	brain
49	chr8:125698400-125699800	Enhancers	Primary B cells from cord blood	blood
50	chr8:125698400-125700000	Enhancers	Cortex derived primary cultured neurospheres	brain

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