Variant report

Variant	rs1878323
Chromosome Location	chr4:7980725-7980726
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7973238..7976056-chr4:7980066..7981632,2	MCF-7	breast:
2	chr4:7972595..7975049-chr4:7979721..7982181,5	MCF-7	breast:
3	chr4:7978137..7980891-chr4:8001316..8003240,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12644609	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1317282	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16841523	0.83[YRI][hapmap]
rs2386052	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6447897	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7654924	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7677869	0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs870714	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	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
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv829851	chr4:7958698-8049060	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv878579	chr4:7969594-8011696	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases
9	esv3416930	chr4:7980394-7980991	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7967000-7987600	Weak transcription	Psoas Muscle	Psoas
2	chr4:7974400-7989400	Weak transcription	Gastric	stomach
3	chr4:7975600-7983600	Weak transcription	Brain Angular Gyrus	brain
4	chr4:7975600-7984800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:7975800-7981600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:7975800-7988400	Weak transcription	Aorta	Aorta
7	chr4:7975800-8004800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:7976000-7981200	Weak transcription	Osteobl	bone
9	chr4:7976000-7988000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:7978800-7987800	Weak transcription	Fetal Kidney	kidney
11	chr4:7978800-8006000	Weak transcription	Brain Anterior Caudate	brain
12	chr4:7979000-7982000	Enhancers	HMEC	breast
13	chr4:7979200-7981800	Enhancers	Fetal Intestine Small	intestine
14	chr4:7979600-7981000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr4:7979600-7981600	Enhancers	Duodenum Mucosa	Duodenum
16	chr4:7979600-7981800	Enhancers	Fetal Intestine Large	intestine
17	chr4:7979600-7982000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:7979600-7982000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:7979600-7982000	Enhancers	HSMMtube	muscle
20	chr4:7979600-7982200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:7979600-8011400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr4:7979800-7980800	Enhancers	Fetal Muscle Leg	muscle
23	chr4:7979800-7980800	Enhancers	Fetal Stomach	stomach
24	chr4:7979800-7980800	Enhancers	Stomach Smooth Muscle	stomach
25	chr4:7979800-7980800	Flanking Active TSS	Hela-S3	cervix
26	chr4:7979800-7981000	Enhancers	Fetal Lung	lung
27	chr4:7979800-7981000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr4:7979800-7981200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:7979800-7981200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:7979800-7981400	Enhancers	Fetal Heart	heart
31	chr4:7979800-7981600	Enhancers	Esophagus	oesophagus
32	chr4:7979800-7981600	Enhancers	Placenta	Placenta
33	chr4:7979800-7981800	Enhancers	Fetal Thymus	thymus
34	chr4:7979800-7982000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:7979800-7982000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:7979800-7982000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr4:7979800-7982000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:7979800-7982000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:7979800-7982000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr4:7979800-7982400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:7980000-7980800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:7980000-7980800	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr4:7980000-7980800	Flanking Active TSS	NHEK	skin
44	chr4:7980000-7981000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr4:7980000-7981000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
46	chr4:7980000-7981000	Enhancers	A549	lung
47	chr4:7980000-7981200	Enhancers	Colon Smooth Muscle	Colon
48	chr4:7980000-7981600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:7980000-7981800	Enhancers	Placenta Amnion	Placenta Amnion
50	chr4:7980000-7982000	Enhancers	H1 Cell Line	embryonic stem cell

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