Variant report

Variant	rs113486891
Chromosome Location	chr8:126118443-126118444
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126116434..126120549-chr8:126124395..126129620,4	K562	blood:
2	chr8:126107482..126112486-chr8:126114879..126119066,5	MCF-7	breast:
3	chr8:126102591..126105691-chr8:126115903..126118524,3	MCF-7	breast:
4	chr8:126117610..126119168-chr8:126119754..126122274,2	MCF-7	breast:
5	chr8:126112265..126115118-chr8:126118237..126122453,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164961	Chromatin interaction
ENSG00000156831	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv465803	chr8:126068197-126132816	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
6	nsv612148	chr8:126068197-126132816	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
8	nsv1022954	chr8:126117811-126180331	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126104600-126120200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:126105000-126123200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:126105000-126123200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:126105000-126131400	Weak transcription	Fetal Kidney	kidney
5	chr8:126105200-126156400	Weak transcription	Fetal Brain Male	brain
6	chr8:126105400-126122200	Weak transcription	NHDF-Ad	bronchial
7	chr8:126105400-126123200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:126105400-126131200	Weak transcription	Fetal Heart	heart
9	chr8:126105600-126122600	Weak transcription	Stomach Mucosa	stomach
10	chr8:126108600-126122200	Weak transcription	NHEK	skin
11	chr8:126113200-126118800	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:126113400-126118600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:126113400-126121600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:126113600-126123600	Strong transcription	Fetal Thymus	thymus
15	chr8:126113800-126118800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr8:126114000-126118600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr8:126114200-126118600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:126114200-126123000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr8:126114200-126123600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:126114400-126118600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:126114400-126118600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:126114400-126118600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:126114400-126118600	Strong transcription	Primary B cells from cord blood	blood
24	chr8:126114400-126118600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:126114400-126118600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr8:126114400-126118600	Strong transcription	HepG2	liver
27	chr8:126114400-126118800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr8:126114400-126119200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:126114400-126121200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:126114400-126121200	Strong transcription	Liver	Liver
31	chr8:126114400-126122000	Strong transcription	Dnd41	blood
32	chr8:126114400-126124200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr8:126114600-126118600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:126114600-126118600	Strong transcription	Fetal Intestine Large	intestine
35	chr8:126114600-126120400	Strong transcription	Placenta	Placenta
36	chr8:126114600-126121400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:126114800-126120200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:126115800-126122600	Weak transcription	NH-A	brain
39	chr8:126116200-126121400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:126116400-126118600	Strong transcription	Brain Cingulate Gyrus	brain
41	chr8:126116400-126120600	Strong transcription	Fetal Lung	lung
42	chr8:126116400-126121200	Strong transcription	Stomach Smooth Muscle	stomach
43	chr8:126116600-126118600	Strong transcription	Osteobl	bone
44	chr8:126116800-126122600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:126117000-126120400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:126117000-126122800	Weak transcription	HSMM	muscle
47	chr8:126117200-126118800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:126117200-126120600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:126117200-126122200	Weak transcription	NHLF	lung
50	chr8:126117200-126122600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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