Variant report

Variant	rs4696930
Chromosome Location	chr4:7982112-7982113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7943913..7945893-chr4:7981237..7983380,2	MCF-7	breast:
2	chr4:7972595..7975049-chr4:7979721..7982181,5	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12644791	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1317283	0.91[ASN][1000 genomes]
rs1317284	0.91[ASN][1000 genomes]
rs1317285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1574393	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28447132	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28461913	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28480985	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28653042	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28712356	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4696663	0.82[CEU][hapmap]
rs4696724	1.00[CEU][hapmap];0.91[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4696725	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4696927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6818752	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6824006	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6830083	0.91[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	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9685030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:59 , 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	chr4:7975800-7988400	Weak transcription	Aorta	Aorta
6	chr4:7975800-8004800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:7976000-7988000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:7978800-7987800	Weak transcription	Fetal Kidney	kidney
9	chr4:7978800-8006000	Weak transcription	Brain Anterior Caudate	brain
10	chr4:7979600-7982200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:7979600-8011400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:7979800-7982400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:7980000-7982200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:7980000-7982200	Enhancers	Stomach Mucosa	stomach
15	chr4:7980400-7983800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:7980600-7982400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:7980600-7983400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr4:7980600-7987400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:7980800-7987200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:7980800-7987800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:7981000-7982400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr4:7981000-7983400	Weak transcription	Fetal Lung	lung
23	chr4:7981000-7983800	Weak transcription	Spleen	Spleen
24	chr4:7981000-7987400	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:7981000-7987600	Weak transcription	Right Atrium	heart
26	chr4:7981000-7987800	Weak transcription	Left Ventricle	heart
27	chr4:7981000-7989400	Weak transcription	A549	lung
28	chr4:7981000-7992000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr4:7981200-7983400	Weak transcription	Ovary	ovary
30	chr4:7981200-7983600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:7981200-7983600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:7981200-7987200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:7981400-7982200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr4:7981400-7982600	Enhancers	NHEK	skin
35	chr4:7981400-7983200	Weak transcription	Fetal Heart	heart
36	chr4:7981400-7983400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr4:7981400-7986400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:7981400-7987400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:7981600-7982200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr4:7981600-7982400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:7981600-7983000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr4:7981600-7983200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:7981600-7983200	Weak transcription	Colonic Mucosa	Colon
44	chr4:7981600-7983400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr4:7981600-7987400	Weak transcription	Lung	lung
46	chr4:7981600-7989400	Weak transcription	Esophagus	oesophagus
47	chr4:7981800-7983000	Weak transcription	Fetal Intestine Small	intestine
48	chr4:7981800-7983200	Weak transcription	Fetal Intestine Large	intestine
49	chr4:7981800-7983200	Weak transcription	Fetal Thymus	thymus
50	chr4:7981800-7983200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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