Variant report

Variant	rs116418534
Chromosome Location	chr8:131028184-131028185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:130960320..130961292-chr8:131027438..131028472,5	MCF-7	breast:
2	chr8:131019270..131022496-chr8:131027575..131029857,4	MCF-7	breast:
3	chr8:130950293..130952850-chr8:131027033..131029151,3	MCF-7	breast:
4	chr20:47442643..47444706-chr8:131026917..131028434,2	MCF-7	breast:
5	chr8:130981588..130985969-chr8:131027661..131030801,4	K562	blood:
6	chr8:130949293..130953390-chr8:131026261..131028875,4	K562	blood:
7	chr8:130908607..130911071-chr8:131026510..131028615,2	MCF-7	breast:
8	chr8:130949943..130953390-chr8:131026093..131029581,5	K562	blood:
9	chr8:131018416..131020834-chr8:131027208..131028989,2	MCF-7	breast:
10	chr8:130950508..130954142-chr8:131027064..131029855,6	MCF-7	breast:
11	chr8:130981588..130985969-chr8:131024671..131030870,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153310	Chromatin interaction
ENSG00000264653	Chromatin interaction
ENSG00000124126	Chromatin interaction
ENSG00000253720	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv465809	chr8:131005345-131031827	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv612233	chr8:131005345-131031827	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	esv3358282	chr8:131027595-131030143	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv3389294	chr8:131027670-131029918	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131026600-131028200	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr8:131026600-131028200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr8:131026600-131028200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr8:131026800-131028200	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr8:131026800-131028200	Flanking Active TSS	GM12878-XiMat	blood
6	chr8:131026800-131028400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:131026800-131029600	Active TSS	Brain Anterior Caudate	brain
8	chr8:131027000-131028200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr8:131027000-131028200	Flanking Active TSS	Fetal Muscle Leg	muscle
10	chr8:131027000-131028200	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr8:131027000-131029600	Active TSS	Brain Hippocampus Middle	brain
12	chr8:131027000-131029600	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr8:131027200-131028200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:131027200-131029000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr8:131027200-131029200	Active TSS	Right Ventricle	heart
16	chr8:131027200-131029400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:131027200-131029400	Active TSS	Psoas Muscle	Psoas
18	chr8:131027200-131029400	Active TSS	Rectal Smooth Muscle	rectum
19	chr8:131027400-131028200	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr8:131027400-131028200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr8:131027400-131028200	Flanking Active TSS	Placenta	Placenta
22	chr8:131027400-131028200	Flanking Active TSS	Fetal Thymus	thymus
23	chr8:131027400-131028200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr8:131027400-131028200	Flanking Active TSS	Dnd41	blood
25	chr8:131027400-131029000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:131027400-131029400	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr8:131027400-131029400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:131027400-131029400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:131027600-131028200	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr8:131027600-131028200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:131027600-131028200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr8:131027600-131028200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:131027600-131028200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:131027600-131028200	Flanking Active TSS	Colonic Mucosa	Colon
35	chr8:131027600-131028200	Active TSS	Fetal Kidney	kidney
36	chr8:131027600-131028200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr8:131027600-131028400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:131027600-131028400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:131027600-131029200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:131027600-131029200	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr8:131027600-131029200	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr8:131027600-131029200	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr8:131027600-131029200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:131027600-131029200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:131027600-131029200	Active TSS	Aorta	Aorta
46	chr8:131027600-131029200	Active TSS	Brain Cingulate Gyrus	brain
47	chr8:131027600-131029200	Active TSS	Small Intestine	intestine
48	chr8:131027600-131029200	Active TSS	NHLF	lung
49	chr8:131027600-131029400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:131027600-131029400	Active TSS	iPS-18 Cell Line	embryonic stem cell

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