Variant report

Variant	rs6830083
Chromosome Location	chr4:7979904-7979905
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	chr4:7972595..7975049-chr4:7979721..7982181,5	MCF-7	breast:
2	chr4:7978137..7980891-chr4:8001316..8003240,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12644791	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1317283	0.97[ASN][1000 genomes]
rs1317284	0.97[ASN][1000 genomes]
rs1317285	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1574393	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28447132	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28461913	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28480985	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28653042	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28712356	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4696724	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4696725	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4696927	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4696930	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6818752	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6824006	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7664556	0.84[EUR][1000 genomes]
rs7695963	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9685030	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[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	esv3325565	chr4:7976452-7980650	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	2 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	chr4:7967000-7987600	Weak transcription	Psoas Muscle	Psoas
2	chr4:7970400-7980200	Weak transcription	HSMM	muscle
3	chr4:7972200-7980600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:7972400-7980200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:7973000-7980000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:7973000-7980200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:7973000-7980200	Weak transcription	Adipose Nuclei	Adipose
8	chr4:7973600-7980400	Weak transcription	Ovary	ovary
9	chr4:7974400-7989400	Weak transcription	Gastric	stomach
10	chr4:7974600-7980000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:7974600-7980000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:7974600-7980000	Weak transcription	HUVEC	blood vessel
13	chr4:7974600-7980400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:7974800-7980200	Weak transcription	Lung	lung
15	chr4:7975000-7980400	Weak transcription	Pancreas	Pancrea
16	chr4:7975600-7980000	Weak transcription	Stomach Mucosa	stomach
17	chr4:7975600-7980000	Weak transcription	A549	lung
18	chr4:7975600-7983600	Weak transcription	Brain Angular Gyrus	brain
19	chr4:7975600-7984800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr4:7975800-7980000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:7975800-7980000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr4:7975800-7980000	Weak transcription	NH-A	brain
23	chr4:7975800-7980200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:7975800-7980200	Weak transcription	Left Ventricle	heart
25	chr4:7975800-7980200	Weak transcription	Right Atrium	heart
26	chr4:7975800-7981600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr4:7975800-7988400	Weak transcription	Aorta	Aorta
28	chr4:7975800-8004800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr4:7976000-7981200	Weak transcription	Osteobl	bone
30	chr4:7976000-7988000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:7976400-7980000	Weak transcription	Colon Smooth Muscle	Colon
32	chr4:7977600-7980000	Enhancers	NHEK	skin
33	chr4:7977600-7980400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:7978000-7980200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr4:7978200-7980600	Weak transcription	Spleen	Spleen
36	chr4:7978400-7980000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr4:7978400-7980600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:7978600-7980200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:7978800-7980000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:7978800-7980200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr4:7978800-7987800	Weak transcription	Fetal Kidney	kidney
42	chr4:7978800-8006000	Weak transcription	Brain Anterior Caudate	brain
43	chr4:7979000-7980000	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr4:7979000-7982000	Enhancers	HMEC	breast
45	chr4:7979200-7981800	Enhancers	Fetal Intestine Small	intestine
46	chr4:7979600-7980000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr4:7979600-7981000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr4:7979600-7981600	Enhancers	Duodenum Mucosa	Duodenum
49	chr4:7979600-7981800	Enhancers	Fetal Intestine Large	intestine
50	chr4:7979600-7982000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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