Variant report

Variant	rs545687120
Chromosome Location	chr4:8160269-8160270
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8158369..8164233-chr4:8200767..8204083,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125089	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	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv469779	chr4:7965253-8177646	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	nsv482448	chr4:7965253-8177646	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv878591	chr4:8063501-8207083	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv878592	chr4:8105399-8163560	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv878593	chr4:8125788-8233341	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	esv3357410	chr4:8159277-8161825	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8157600-8160400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr4:8158600-8162000	Active TSS	Psoas Muscle	Psoas
3	chr4:8158800-8161200	Active TSS	Brain Angular Gyrus	brain
4	chr4:8159000-8160400	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr4:8159200-8160400	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr4:8159200-8160400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
7	chr4:8159200-8161200	Active TSS	HSMM	muscle
8	chr4:8159200-8161600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr4:8159200-8162000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr4:8159400-8160400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:8159400-8160400	Flanking Active TSS	Colonic Mucosa	Colon
12	chr4:8159400-8161000	Active TSS	HSMMtube	muscle
13	chr4:8159400-8161600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr4:8159400-8161600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr4:8159400-8161600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr4:8159600-8160400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
17	chr4:8159600-8160400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
18	chr4:8159600-8160400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:8159600-8160400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:8159600-8160400	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr4:8159600-8160400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
22	chr4:8159600-8161000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:8159600-8161200	Active TSS	Aorta	Aorta
24	chr4:8159600-8161200	Bivalent/Poised TSS	HepG2	liver
25	chr4:8159600-8161400	Active TSS	Rectal Smooth Muscle	rectum
26	chr4:8159600-8161600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr4:8159600-8161600	Active TSS	Right Atrium	heart
28	chr4:8159800-8160400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
29	chr4:8159800-8160400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr4:8159800-8160400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:8159800-8160400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:8159800-8160400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:8159800-8160400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr4:8159800-8160400	Flanking Active TSS	Liver	Liver
35	chr4:8159800-8160400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
36	chr4:8159800-8160400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
37	chr4:8159800-8160400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr4:8159800-8160400	Flanking Active TSS	Dnd41	blood
39	chr4:8159800-8160400	Flanking Bivalent TSS/Enh	HMEC	breast
40	chr4:8159800-8160800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:8159800-8161000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:8159800-8161000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:8159800-8161200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:8159800-8161200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr4:8159800-8161200	Active TSS	Brain Anterior Caudate	brain
46	chr4:8159800-8161200	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr4:8159800-8161400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
48	chr4:8159800-8161400	Active TSS	Ovary	ovary
49	chr4:8159800-8161600	Active TSS	H9 Cell Line	embryonic stem cell
50	chr4:8159800-8161600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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