Variant report

Variant	rs191415525
Chromosome Location	chr6:131455980-131455981
allele	A/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	POLR2A	chr6:131455747-131457842	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr6:131455744-131457623	HepG2	liver:	n/a	n/a
3	TEAD4	chr6:131455929-131456689	HepG2	liver:	n/a	n/a
4	GATA3	chr6:131455940-131456125	SH-SY5Y	brain:	n/a	n/a
5	BRCA1	chr6:131455939-131456362	Hela-S3	cervix:	n/a	n/a
6	MYC	chr6:131455884-131456573	MCF10A-Er-Src	breast:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
7	POLR2A	chr6:131455500-131457509	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131455039..131456597-chr6:131460458..131462514,2	K562	blood:
2	chr6:131452705..131454330-chr6:131455080..131456599,2	K562	blood:

Variant related genes	Relation type
AKAP7	TF binding region

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	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv830807	chr6:131390952-131581931	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv886664	chr6:131443843-131754930	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv3398888	chr6:131455859-131457857	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131446000-131456200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:131449000-131456000	Weak transcription	Fetal Brain Male	brain
3	chr6:131455000-131456200	Enhancers	Small Intestine	intestine
4	chr6:131455400-131456200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:131455400-131456200	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr6:131455600-131456000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:131455600-131456000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:131455600-131456000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr6:131455600-131456000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr6:131455600-131456000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:131455600-131456000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:131455600-131456000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:131455600-131456000	Flanking Active TSS	Brain Substantia Nigra	brain
14	chr6:131455600-131456000	Enhancers	Colon Smooth Muscle	Colon
15	chr6:131455600-131456000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:131455600-131456000	Flanking Active TSS	Fetal Lung	lung
17	chr6:131455600-131456000	Flanking Active TSS	HepG2	liver
18	chr6:131455600-131456200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:131455600-131456400	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr6:131455600-131456400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:131455600-131458000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr6:131455600-131458200	Active TSS	Stomach Smooth Muscle	stomach
23	chr6:131455800-131456000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr6:131455800-131456000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr6:131455800-131456000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:131455800-131456000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:131455800-131456000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr6:131455800-131456000	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr6:131455800-131456000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr6:131455800-131456000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:131455800-131456000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr6:131455800-131456000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:131455800-131456000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr6:131455800-131456000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr6:131455800-131456000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:131455800-131456000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:131455800-131456000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:131455800-131456000	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr6:131455800-131456000	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr6:131455800-131456000	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr6:131455800-131456000	Enhancers	Duodenum Mucosa	Duodenum
42	chr6:131455800-131456000	Enhancers	Fetal Heart	heart
43	chr6:131455800-131456000	Enhancers	Fetal Intestine Large	intestine
44	chr6:131455800-131456000	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr6:131455800-131456000	Active TSS	Fetal Kidney	kidney
46	chr6:131455800-131456000	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr6:131455800-131456000	Enhancers	Fetal Stomach	stomach
48	chr6:131455800-131456000	Flanking Active TSS	Ovary	ovary
49	chr6:131455800-131456000	Enhancers	Right Atrium	heart
50	chr6:131455800-131456000	Enhancers	Skeletal Muscle Male	skeletal muscle

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