Variant report

Variant	rs548025137
Chromosome Location	chr8:126102896-126102897
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr8:126102270-126105465	Hela-S3	cervix:	n/a	n/a
2	MEF2A	chr8:126102757-126103430	K562	blood:	n/a	chr8:126102997-126103018 chr8:126102998-126103013 chr8:126102998-126103014 chr8:126102997-126103018 chr8:126103002-126103011 chr8:126102999-126103014 chr8:126103000-126103011 chr8:126102999-126103013 chr8:126103001-126103012 chr8:126102997-126103018

No.	Distal block	Cell Line	Cell type
1	chr12:120729365..120731964-chr8:126101720..126104275,2	MCF-7	breast:
2	chr8:125547520..125551844-chr8:126101419..126105683,3	MCF-7	breast:
3	chr8:126101179..126103538-chr8:126440176..126443117,2	K562	blood:
4	chr8:126100915..126106135-chr8:126441974..126444669,8	MCF-7	breast:
5	chr8:126093925..126097720-chr8:126099052..126104024,5	MCF-7	breast:
6	chr8:126010080..126012320-chr8:126100351..126105467,4	MCF-7	breast:
7	chr8:126095296..126097801-chr8:126101628..126103639,2	K562	blood:
8	chr8:126101740..126106410-chr8:126441508..126444796,5	MCF-7	breast:
9	chr8:126094932..126099483-chr8:126100368..126105771,7	K562	blood:

Variant related genes	Relation type
NSMCE2	TF binding region
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000173334	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000253513	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000164961	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126029800-126103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:126052800-126103200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:126071800-126103000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:126091000-126103000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:126091200-126103000	Weak transcription	Esophagus	oesophagus
6	chr8:126091200-126103000	Weak transcription	Pancreas	Pancrea
7	chr8:126091200-126103200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:126091800-126103200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:126093000-126103000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:126094000-126103000	Weak transcription	Lung	lung
11	chr8:126094000-126103000	Weak transcription	Right Ventricle	heart
12	chr8:126094400-126103000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:126094400-126103000	Weak transcription	Left Ventricle	heart
14	chr8:126094400-126103000	Weak transcription	Ovary	ovary
15	chr8:126094600-126103000	Weak transcription	Colonic Mucosa	Colon
16	chr8:126095000-126103000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:126098400-126103000	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:126098400-126103000	Weak transcription	Gastric	stomach
19	chr8:126099200-126103000	Weak transcription	Fetal Stomach	stomach
20	chr8:126099200-126103000	Weak transcription	Spleen	Spleen
21	chr8:126099400-126103000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:126100200-126103000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr8:126100400-126103000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr8:126100800-126103000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr8:126101000-126103000	Enhancers	Primary B cells from peripheral blood	blood
26	chr8:126101200-126103000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:126101200-126103000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:126101200-126103000	Enhancers	Liver	Liver
29	chr8:126101600-126103000	Enhancers	Brain Cingulate Gyrus	brain
30	chr8:126101800-126103000	Enhancers	Primary T cells from cord blood	blood
31	chr8:126101800-126103000	Enhancers	Fetal Lung	lung
32	chr8:126101800-126103000	Weak transcription	Placenta	Placenta
33	chr8:126102000-126103000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr8:126102000-126103000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:126102400-126103000	Enhancers	Fetal Heart	heart
36	chr8:126102400-126103000	Enhancers	Fetal Intestine Small	intestine
37	chr8:126102400-126103200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:126102400-126103200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:126102400-126103200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:126102400-126103200	Flanking Active TSS	Brain Germinal Matrix	brain
41	chr8:126102400-126103400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:126102400-126103400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:126102400-126103400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr8:126102400-126103400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr8:126102400-126103400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:126102400-126103400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:126102400-126103400	Flanking Active TSS	Dnd41	blood
48	chr8:126102400-126103400	Flanking Active TSS	Hela-S3	cervix
49	chr8:126102400-126103400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr8:126102400-126103600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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