Variant report

Variant	rs72942211
Chromosome Location	chr3:101129448-101129449
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	chr3:101120465..101123774-chr3:101129092..101132210,3	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11707689	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11708616	0.90[EUR][1000 genomes]
rs11710016	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11711808	0.88[EUR][1000 genomes]
rs12638137	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12638796	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17402964	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55710435	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56171035	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57880921	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58835747	0.88[EUR][1000 genomes]
rs59359251	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6791964	0.83[EUR][1000 genomes]
rs72940399	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72944107	0.95[EUR][1000 genomes]
rs72946021	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3439278	chr3:100936513-101162102	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101085600-101137600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:101106800-101133000	Weak transcription	Left Ventricle	heart
3	chr3:101106800-101133000	Weak transcription	Pancreas	Pancrea
4	chr3:101106800-101133000	Weak transcription	Spleen	Spleen
5	chr3:101107000-101140800	Weak transcription	Esophagus	oesophagus
6	chr3:101107200-101133000	Weak transcription	Gastric	stomach
7	chr3:101107200-101133000	Weak transcription	Thymus	Thymus
8	chr3:101107200-101161200	Weak transcription	Aorta	Aorta
9	chr3:101108600-101138000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:101109400-101133600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr3:101110800-101132400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr3:101111600-101138000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr3:101111600-101145800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr3:101111800-101134800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:101114600-101133000	Weak transcription	Fetal Thymus	thymus
16	chr3:101114600-101134800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:101115200-101133000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:101117000-101132800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr3:101117600-101130800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:101118000-101133000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:101120000-101133400	Weak transcription	Ovary	ovary
22	chr3:101120000-101142400	Weak transcription	Fetal Stomach	stomach
23	chr3:101124200-101133000	Weak transcription	Lung	lung
24	chr3:101124200-101133000	Weak transcription	Psoas Muscle	Psoas
25	chr3:101124200-101140800	Weak transcription	Fetal Intestine Small	intestine
26	chr3:101126600-101135200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:101126800-101132800	Weak transcription	Fetal Heart	heart
28	chr3:101127400-101135200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:101127400-101136800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:101127400-101143200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr3:101127800-101132600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr3:101128000-101132800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr3:101128000-101138400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr3:101128400-101133200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr3:101128400-101133600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr3:101128400-101133800	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:101128600-101130000	Strong transcription	Primary T cells from cord blood	blood
38	chr3:101128600-101146200	Weak transcription	Dnd41	blood
39	chr3:101128800-101129600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
40	chr3:101128800-101133600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr3:101128800-101133800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr3:101129000-101132400	Weak transcription	Primary B cells from cord blood	blood
43	chr3:101129200-101129600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr3:101129200-101160000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr3:101129400-101129800	Weak transcription	Fetal Lung	lung
46	chr3:101129400-101132200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr3:101129400-101133000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:101129400-101133200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:101129400-101137000	Weak transcription	Primary hematopoietic stem cells	blood

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