Variant report

Variant	rs1969069
Chromosome Location	chr4:7209027-7209028
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7199149..7200826-chr4:7208217..7211215,2	MCF-7	breast:
2	chr4:7196671..7199411-chr4:7206730..7210883,4	MCF-7	breast:
3	chr4:7206601..7211968-chr4:7218042..7220956,6	MCF-7	breast:
4	chr4:7194235..7196459-chr4:7207702..7209620,2	MCF-7	breast:
5	chr4:7207636..7209824-chr4:7302272..7304285,2	MCF-7	breast:
6	chr4:7191464..7193621-chr4:7207783..7210598,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184985	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs34533808	1.00[EUR][1000 genomes]
rs73077786	1.00[AMR][1000 genomes]
rs73077788	1.00[AMR][1000 genomes]

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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7204200-7209200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:7206200-7210200	Enhancers	Adipose Nuclei	Adipose
3	chr4:7206400-7211000	Enhancers	Brain Cingulate Gyrus	brain
4	chr4:7206600-7211000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:7206800-7210200	Enhancers	HMEC	breast
6	chr4:7206800-7210400	Enhancers	Brain Anterior Caudate	brain
7	chr4:7206800-7210600	Enhancers	Brain Substantia Nigra	brain
8	chr4:7206800-7210800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:7206800-7212800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr4:7207000-7210600	Enhancers	HSMM	muscle
11	chr4:7207200-7209400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:7207200-7209400	Enhancers	NHEK	skin
13	chr4:7207200-7209800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:7207200-7210200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:7207200-7210600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr4:7207200-7211000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr4:7207200-7211000	Enhancers	Rectal Smooth Muscle	rectum
18	chr4:7207400-7209400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:7207400-7209400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:7207400-7209600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:7207400-7214400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:7207400-7214600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:7207800-7209600	Enhancers	HUVEC	blood vessel
24	chr4:7207800-7209800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:7207800-7209800	Flanking Active TSS	Hela-S3	cervix
26	chr4:7207800-7210000	Enhancers	NHDF-Ad	bronchial
27	chr4:7207800-7210400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:7207800-7210600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr4:7207800-7211000	Enhancers	Brain Hippocampus Middle	brain
30	chr4:7207800-7211000	Enhancers	Esophagus	oesophagus
31	chr4:7208000-7209400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:7208000-7209400	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr4:7208000-7209400	Enhancers	K562	blood
34	chr4:7208000-7209600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr4:7208000-7209800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:7208000-7210000	Enhancers	Right Atrium	heart
37	chr4:7208000-7210200	Enhancers	A549	lung
38	chr4:7208000-7210600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr4:7208000-7210600	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr4:7208000-7210800	Enhancers	Brain Angular Gyrus	brain
41	chr4:7208000-7211000	Enhancers	Right Ventricle	heart
42	chr4:7208000-7213000	Enhancers	Liver	Liver
43	chr4:7208200-7209200	Enhancers	Fetal Thymus	thymus
44	chr4:7208200-7209400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:7208200-7209400	Enhancers	Placenta Amnion	Placenta Amnion
46	chr4:7208200-7209600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr4:7208200-7209600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr4:7208200-7209600	Enhancers	Brain Germinal Matrix	brain
49	chr4:7208200-7210000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr4:7208200-7210000	Enhancers	Ovary	ovary

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