Variant report

Variant	rs7003126
Chromosome Location	chr8:120888752-120888753
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120866730..120869816-chr8:120885660..120889126,4	MCF-7	breast:
2	chr8:120866641..120870729-chr8:120883446..120889946,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136982	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10093230	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10094455	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10094458	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10094587	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10098306	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10103058	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10103660	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10107251	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10107361	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10107579	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10110216	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110223	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216503	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10217083	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10808505	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10955940	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10955941	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11777705	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11781657	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545854	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12545863	0.83[AFR][1000 genomes]
rs12677814	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12679937	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12681402	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12681623	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12681883	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13249122	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13250594	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13253140	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13257252	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13257316	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13258592	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs13259990	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13260088	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13260933	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13261304	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13263296	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13265367	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13265546	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13267652	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267896	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13269024	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13275184	0.86[AFR][1000 genomes]
rs13275524	0.83[AFR][1000 genomes]
rs13275528	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13277947	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13277992	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13279398	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13281299	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13282901	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464276	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1467044	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1607624	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2037346	0.84[AMR][1000 genomes]
rs28513081	0.84[AMR][1000 genomes]
rs28669275	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35272074	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4073560	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4871012	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4871013	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4871772	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4871773	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4871787	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs55892034	0.84[AMR][1000 genomes]
rs56864850	0.84[AMR][1000 genomes]
rs6469861	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6469862	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6469863	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6469864	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6469865	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6469867	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6469868	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6469870	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6469871	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6469872	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6469878	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6987580	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6988011	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6989741	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6993375	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6993797	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6995139	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7002839	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7006905	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7015470	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7387264	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7387694	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7388508	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7459671	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7461290	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7462250	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7462302	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7465181	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7465609	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7465612	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7814294	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7814496	0.88[AMR][1000 genomes]
rs7814520	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7818471	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7824545	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7829901	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7832923	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7843326	0.81[AFR][1000 genomes]
rs939241	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs939242	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9649947	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9720591	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9721029	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9721042	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9987332	0.82[AFR][1000 genomes];0.85[AMR][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	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers 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	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120885600-120889000	Active TSS	Ovary	ovary
2	chr8:120885600-120890000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:120885800-120889000	Active TSS	Brain Cingulate Gyrus	brain
4	chr8:120885800-120889600	Active TSS	Fetal Muscle Leg	muscle
5	chr8:120886000-120888800	Active TSS	Gastric	stomach
6	chr8:120886400-120889200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:120886400-120889400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:120887200-120898400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:120887200-120907600	Weak transcription	Pancreas	Pancrea
10	chr8:120887600-120889200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:120887600-120889200	Enhancers	Liver	Liver
12	chr8:120887600-120890000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:120887600-120899400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:120887800-120889200	Enhancers	Fetal Intestine Small	intestine
15	chr8:120887800-120889400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:120887800-120889400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr8:120887800-120889600	Enhancers	Primary hematopoietic stem cells	blood
18	chr8:120887800-120890000	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr8:120887800-120890000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:120888000-120889600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:120888000-120890200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr8:120888000-120903800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:120888200-120903400	Weak transcription	Right Atrium	heart
24	chr8:120888200-120904600	Weak transcription	Fetal Kidney	kidney
25	chr8:120888400-120888800	Enhancers	Esophagus	oesophagus
26	chr8:120888400-120889000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:120888400-120889000	Active TSS	Stomach Mucosa	stomach
28	chr8:120888400-120889800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr8:120888600-120889000	Enhancers	Brain Anterior Caudate	brain
30	chr8:120888600-120889000	Enhancers	Brain Hippocampus Middle	brain
31	chr8:120888600-120889000	Weak transcription	Fetal Stomach	stomach
32	chr8:120888600-120889200	Enhancers	Colon Smooth Muscle	Colon
33	chr8:120888600-120889200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr8:120888600-120889400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr8:120888600-120889600	Weak transcription	Psoas Muscle	Psoas
36	chr8:120888600-120890000	Enhancers	Brain Angular Gyrus	brain
37	chr8:120888600-120890000	Enhancers	Brain Substantia Nigra	brain
38	chr8:120888600-120890200	Enhancers	Rectal Smooth Muscle	rectum
39	chr8:120888600-120890800	Weak transcription	Fetal Intestine Large	intestine
40	chr8:120888600-120899400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:120888600-120899800	Weak transcription	Fetal Muscle Trunk	muscle

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