Variant report

Variant	rs7680813
Chromosome Location	chr4:88131372-88131373
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	chr4:88130964..88133529-chr4:88139788..88142293,2	MCF-7	breast:
2	chr4:88130478..88132737-chr4:88140055..88142847,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145332	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11931927	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11937081	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17012532	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17012552	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6531954	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6531961	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6821399	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6843703	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6844393	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6846760	0.84[EUR][1000 genomes]
rs73839119	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73839122	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7656992	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7657465	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7666055	0.85[ASN][1000 genomes]
rs7679257	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7698284	0.80[AFR][1000 genomes]
rs7698923	0.80[AFR][1000 genomes]
rs964739	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1007020	chr4:88046263-88235018	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537169	chr4:88046263-88235018	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88081800-88140200	Weak transcription	Aorta	Aorta
2	chr4:88091800-88133600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:88092200-88134800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:88097600-88140400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:88109600-88133600	Weak transcription	Fetal Lung	lung
6	chr4:88116400-88138000	Weak transcription	HepG2	liver
7	chr4:88119400-88132600	Weak transcription	Psoas Muscle	Psoas
8	chr4:88121200-88134600	Weak transcription	Pancreas	Pancrea
9	chr4:88122400-88140000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:88125400-88134600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:88125400-88134800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:88125400-88140200	Weak transcription	Fetal Intestine Large	intestine
13	chr4:88125600-88134600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:88125800-88134600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:88126000-88132800	Weak transcription	Fetal Heart	heart
16	chr4:88126800-88140000	Weak transcription	Fetal Stomach	stomach
17	chr4:88127200-88140200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:88127800-88132200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:88128400-88140000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:88128600-88140000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:88128600-88140200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:88128800-88134800	Weak transcription	Brain Germinal Matrix	brain
23	chr4:88129000-88132800	Weak transcription	Right Ventricle	heart
24	chr4:88129000-88133800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:88129000-88134400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:88129000-88134600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:88129000-88134600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:88129000-88134600	Weak transcription	Spleen	Spleen
29	chr4:88129400-88132800	Weak transcription	K562	blood
30	chr4:88129400-88139800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:88129800-88140000	Weak transcription	Fetal Intestine Small	intestine
32	chr4:88130200-88131400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:88130400-88131400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr4:88130400-88131400	Enhancers	Primary B cells from peripheral blood	blood
35	chr4:88130400-88131400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:88130400-88131600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr4:88130400-88131600	Enhancers	Liver	Liver
38	chr4:88130600-88140000	Weak transcription	Fetal Brain Female	brain
39	chr4:88130800-88132000	Weak transcription	Fetal Kidney	kidney
40	chr4:88130800-88134600	Weak transcription	Brain Hippocampus Middle	brain
41	chr4:88130800-88139800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr4:88131000-88131400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr4:88131000-88131400	Enhancers	Primary hematopoietic stem cells	blood
44	chr4:88131000-88131400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:88131000-88131400	Enhancers	Gastric	stomach
46	chr4:88131000-88131400	Enhancers	Left Ventricle	heart
47	chr4:88131000-88131400	Enhancers	Ovary	ovary
48	chr4:88131000-88131400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr4:88131000-88132000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr4:88131000-88132000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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