Variant report

Variant	rs7665218
Chromosome Location	chr4:7894186-7894187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7891241..7895444-chr4:7905345..7908483,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs28373141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28444363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58253022	1.00[AMR][1000 genomes]
rs62636597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6814511	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6814649	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6826354	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6834502	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6848279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6848487	1.00[AMR][1000 genomes]
rs6848677	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7664180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7857800-7896400	Weak transcription	Spleen	Spleen
2	chr4:7878200-7898400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:7881800-7896600	Weak transcription	Lung	lung
4	chr4:7883200-7904400	Weak transcription	Gastric	stomach
5	chr4:7886000-7895800	Weak transcription	Esophagus	oesophagus
6	chr4:7886800-7904400	Weak transcription	Small Intestine	intestine
7	chr4:7889200-7901200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:7891600-7894800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:7891600-7894800	Enhancers	Colon Smooth Muscle	Colon
10	chr4:7891600-7895000	Enhancers	NHDF-Ad	bronchial
11	chr4:7891800-7894400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:7891800-7894400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr4:7891800-7894400	Enhancers	Rectal Smooth Muscle	rectum
14	chr4:7891800-7894400	Enhancers	HepG2	liver
15	chr4:7891800-7894400	Enhancers	NHEK	skin
16	chr4:7891800-7894800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr4:7891800-7894800	Enhancers	Fetal Heart	heart
18	chr4:7891800-7894800	Enhancers	HMEC	breast
19	chr4:7891800-7895000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr4:7891800-7895400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:7891800-7895800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:7892000-7894400	Enhancers	Brain Substantia Nigra	brain
23	chr4:7892000-7894600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:7892000-7894600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr4:7892000-7897000	Enhancers	Brain Germinal Matrix	brain
26	chr4:7892400-7894200	Enhancers	Brain Hippocampus Middle	brain
27	chr4:7892400-7894400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr4:7892400-7894600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:7892400-7894600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr4:7892400-7894600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr4:7892400-7894800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:7892400-7897000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr4:7892600-7894600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:7892600-7894600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr4:7892600-7894600	Enhancers	Fetal Muscle Leg	muscle
36	chr4:7892600-7894800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:7892600-7903800	Weak transcription	Stomach Mucosa	stomach
38	chr4:7892800-7894400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:7892800-7894600	Enhancers	Fetal Stomach	stomach
40	chr4:7892800-7896000	Enhancers	Fetal Muscle Trunk	muscle
41	chr4:7893000-7894600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:7893000-7902200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr4:7893200-7894200	Weak transcription	Fetal Brain Male	brain
44	chr4:7893200-7894800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:7893200-7895000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:7893200-7895000	Enhancers	HUVEC	blood vessel
47	chr4:7893200-7895000	Enhancers	NHLF	lung
48	chr4:7893200-7896600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:7893200-7903400	Weak transcription	Fetal Kidney	kidney
50	chr4:7893200-7905600	Weak transcription	Brain Angular Gyrus	brain

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