Variant report

Variant	rs191214080
Chromosome Location	chr4:7198469-7198470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7196671..7199411-chr4:7206730..7210883,4	MCF-7	breast:
2	chr4:7194853..7196911-chr4:7197699..7199665,2	K562	blood:
3	chr4:7196173..7199298-chr4:7297617..7300967,3	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv829850	chr4:7112509-7314016	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv461194	chr4:7154743-7219933	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv593561	chr4:7154743-7219933	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv432556	chr4:7174993-7391948	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv461197	chr4:7183984-7222362	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv593563	chr4:7183984-7222362	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv878540	chr4:7186257-7231782	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv593564	chr4:7197393-7222781	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7195600-7198800	Bivalent Enhancer	Fetal Muscle Leg	muscle
2	chr4:7195600-7199200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
3	chr4:7195600-7201200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:7195600-7208000	Weak transcription	Right Atrium	heart
5	chr4:7196200-7199200	Weak transcription	Hela-S3	cervix
6	chr4:7196200-7199400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:7196200-7200800	Enhancers	NH-A	brain
8	chr4:7196200-7207800	Weak transcription	Psoas Muscle	Psoas
9	chr4:7196800-7201200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:7196800-7202600	Weak transcription	Colon Smooth Muscle	Colon
11	chr4:7197000-7200000	Enhancers	HMEC	breast
12	chr4:7197000-7207800	Weak transcription	Esophagus	oesophagus
13	chr4:7197200-7198600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:7197200-7198800	Enhancers	HSMMtube	muscle
15	chr4:7197200-7202600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:7197400-7199200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:7197400-7199200	Weak transcription	A549	lung
18	chr4:7197400-7199400	Weak transcription	Ovary	ovary
19	chr4:7197400-7199600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:7197600-7198800	Weak transcription	Brain Hippocampus Middle	brain
21	chr4:7197800-7198600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:7197800-7199800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr4:7198000-7198600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
24	chr4:7198000-7198800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:7198000-7198800	Weak transcription	Brain Anterior Caudate	brain
26	chr4:7198000-7199000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr4:7198000-7199200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:7198000-7199800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:7198200-7198800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:7198200-7198800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr4:7198200-7198800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:7198200-7202400	Weak transcription	HSMM	muscle
33	chr4:7198200-7202600	Weak transcription	Fetal Heart	heart
34	chr4:7198200-7203800	Weak transcription	Brain Germinal Matrix	brain
35	chr4:7198400-7198800	Weak transcription	Fetal Thymus	thymus
36	chr4:7198400-7198800	Bivalent Enhancer	NHEK	skin
37	chr4:7198400-7199600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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