Variant report

Variant	rs2668219
Chromosome Location	chr3:112311608-112311609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112310810..112314084-chr3:112358545..112361034,3	MCF-7	breast:
2	chr3:112305089..112306971-chr3:112309621..112312159,2	MCF-7	breast:
3	chr3:112309559..112314656-chr3:112358465..112361451,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091986	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1105938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1155073	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1398091	0.85[AMR][1000 genomes]
rs1488259	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1533159	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1601852	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1814052	0.87[ASN][1000 genomes]
rs1873572	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2137199	0.85[AMR][1000 genomes]
rs2171514	0.87[ASN][1000 genomes]
rs2292442	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2633574	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2633575	0.87[ASN][1000 genomes]
rs2633579	0.86[ASN][1000 genomes]
rs2633588	0.87[ASN][1000 genomes]
rs2633589	0.87[ASN][1000 genomes]
rs2638013	0.87[ASN][1000 genomes]
rs2638015	0.87[ASN][1000 genomes]
rs2638019	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2638023	0.87[ASN][1000 genomes]
rs2638026	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2638028	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638029	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638032	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2638035	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638039	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2668215	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2705505	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2705507	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2705515	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705518	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705519	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2705521	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2705522	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2705525	0.87[ASN][1000 genomes]
rs2705541	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2705548	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2705552	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2705556	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2705560	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705562	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2705564	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705565	0.86[ASN][1000 genomes]
rs2933134	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2933135	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2933137	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2942061	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952319	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952320	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952324	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2952325	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2969895	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2969896	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2971204	0.86[ASN][1000 genomes]
rs3112268	0.86[ASN][1000 genomes]
rs728568	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs751875	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs766969	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs998036	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv877342	chr3:112185025-112332629	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv591301	chr3:112252532-112332629	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112281800-112312000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:112281800-112315400	Weak transcription	Pancreas	Pancrea
3	chr3:112281800-112324200	Weak transcription	Spleen	Spleen
4	chr3:112281800-112325400	Weak transcription	Gastric	stomach
5	chr3:112282000-112312200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:112282000-112330400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:112282000-112330600	Weak transcription	Esophagus	oesophagus
8	chr3:112282400-112312400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:112282400-112316800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:112282400-112322800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:112282400-112324200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:112282400-112340000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:112283000-112316400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:112290400-112317400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:112290600-112315600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:112291600-112320600	Weak transcription	NHLF	lung
17	chr3:112293200-112315600	Weak transcription	NH-A	brain
18	chr3:112293200-112318000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr3:112298600-112325200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:112298800-112335200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:112299200-112315000	Weak transcription	NHEK	skin
22	chr3:112300200-112315800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:112300200-112317400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:112300200-112331000	Weak transcription	Lung	lung
25	chr3:112300200-112334000	Weak transcription	Fetal Stomach	stomach
26	chr3:112301600-112315600	Weak transcription	Stomach Mucosa	stomach
27	chr3:112301600-112316600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:112302000-112313800	Weak transcription	Dnd41	blood
29	chr3:112302000-112317400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr3:112302600-112322800	Weak transcription	Colon Smooth Muscle	Colon
31	chr3:112302800-112324200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr3:112303400-112317000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr3:112303600-112322800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:112303800-112312200	Weak transcription	Brain Angular Gyrus	brain
35	chr3:112303800-112324200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr3:112304000-112320400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr3:112304200-112317600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr3:112304400-112312000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:112304400-112312000	Weak transcription	Ovary	ovary
40	chr3:112305000-112315000	Weak transcription	HSMM	muscle
41	chr3:112305000-112324200	Weak transcription	Fetal Brain Male	brain
42	chr3:112305200-112312000	Weak transcription	NHDF-Ad	bronchial
43	chr3:112305200-112312200	Weak transcription	Thymus	Thymus
44	chr3:112305200-112315200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr3:112305200-112315400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr3:112305200-112315600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:112305200-112315800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr3:112305200-112316000	Weak transcription	Osteobl	bone
49	chr3:112305200-112317200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr3:112305200-112323000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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