Variant report

Variant	rs72930607
Chromosome Location	chr3:100470327-100470328
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	chr3:100468053..100471019-chr3:100472317..100474592,2	MCF-7	breast:
2	chr3:100468860..100470969-chr3:100476440..100479062,2	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs1027703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1319005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13315123	0.83[AMR][1000 genomes]
rs13316513	0.83[AMR][1000 genomes]
rs13317522	0.83[AMR][1000 genomes]
rs13317752	0.83[AMR][1000 genomes]
rs13318765	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13318793	0.83[AMR][1000 genomes]
rs13319530	0.83[AMR][1000 genomes]
rs13325014	0.83[AMR][1000 genomes]
rs13326828	0.83[AMR][1000 genomes]
rs13327329	0.83[AMR][1000 genomes]
rs13433681	0.83[AMR][1000 genomes]
rs13433684	0.83[AMR][1000 genomes]
rs13434023	0.83[AMR][1000 genomes]
rs16842638	0.83[AMR][1000 genomes]
rs16842679	0.83[AMR][1000 genomes]
rs16842705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16847405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2128224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2128225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2128226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28380383	0.83[AMR][1000 genomes]
rs28469597	0.83[AMR][1000 genomes]
rs28523825	0.83[AMR][1000 genomes]
rs28530760	0.83[AMR][1000 genomes]
rs35648279	0.83[AMR][1000 genomes]
rs41272979	0.83[AMR][1000 genomes]
rs4317136	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57687306	0.83[AMR][1000 genomes]
rs58121738	0.83[AMR][1000 genomes]
rs60162187	0.83[AMR][1000 genomes]
rs72917383	1.00[EUR][1000 genomes]
rs72919417	0.83[AMR][1000 genomes]
rs72919423	0.83[AMR][1000 genomes]
rs72919426	0.83[AMR][1000 genomes]
rs72919429	0.83[AMR][1000 genomes]
rs72919433	0.83[AMR][1000 genomes]
rs72928625	0.83[AMR][1000 genomes]
rs72928626	0.83[AMR][1000 genomes]
rs72928628	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928630	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928632	0.83[AMR][1000 genomes]
rs72928634	0.83[AMR][1000 genomes]
rs72928641	0.83[AMR][1000 genomes]
rs72928658	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928662	0.83[AMR][1000 genomes]
rs72928677	0.83[AMR][1000 genomes]
rs72928680	0.83[AMR][1000 genomes]
rs72928681	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72928698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72928991	0.83[AMR][1000 genomes]
rs72929000	0.83[AMR][1000 genomes]
rs72930614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72930617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72930638	0.83[AMR][1000 genomes]
rs72930703	0.83[AMR][1000 genomes]
rs72930713	0.83[AMR][1000 genomes]
rs72930716	0.83[AMR][1000 genomes]
rs72930730	0.83[AMR][1000 genomes]
rs72930734	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73861218	1.00[EUR][1000 genomes]
rs9290170	0.83[AMR][1000 genomes]
rs9290213	0.83[AMR][1000 genomes]
rs9631470	0.83[AMR][1000 genomes]
rs967308	0.83[AMR][1000 genomes]
rs967309	0.83[AMR][1000 genomes]
rs9809520	0.83[AMR][1000 genomes]
rs9811997	0.83[AMR][1000 genomes]
rs9813673	0.83[AMR][1000 genomes]
rs9813730	0.85[AMR][1000 genomes]
rs9817424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9817550	0.83[AMR][1000 genomes]
rs9817756	0.83[AMR][1000 genomes]
rs9818055	0.83[AMR][1000 genomes]
rs9818126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9822139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9823506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9824297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9825075	0.83[AMR][1000 genomes]
rs9826446	0.83[AMR][1000 genomes]
rs9828249	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9832907	0.85[AMR][1000 genomes]
rs9833043	0.83[AMR][1000 genomes]
rs9833524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9834987	0.83[AMR][1000 genomes]
rs9837310	1.00[EUR][1000 genomes]
rs9839133	0.83[AMR][1000 genomes]
rs9840416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9842040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9843775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9849252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9850735	0.83[AMR][1000 genomes]
rs9853377	0.83[AMR][1000 genomes]
rs9853496	0.83[AMR][1000 genomes]
rs9853591	0.83[AMR][1000 genomes]
rs9853596	0.83[AMR][1000 genomes]
rs9855255	0.83[AMR][1000 genomes]
rs9856442	0.85[AMR][1000 genomes]
rs9859445	0.83[AMR][1000 genomes]
rs9859523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9859730	0.83[AMR][1000 genomes]
rs9861416	0.83[AMR][1000 genomes]
rs9863695	1.00[EUR][1000 genomes]
rs9864113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9865004	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9866866	0.83[AMR][1000 genomes]
rs9868472	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9870028	0.83[AMR][1000 genomes]
rs9871767	0.83[AMR][1000 genomes]
rs9876666	1.00[EUR][1000 genomes]
rs9876678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9877865	0.83[AMR][1000 genomes]
rs9878155	0.83[AMR][1000 genomes]
rs9879396	0.83[AMR][1000 genomes]
rs9881780	0.83[AMR][1000 genomes]
rs9883418	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751968	chr3:100299329-100476713	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv432466	chr3:100299329-100476713	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2751969	chr3:100312499-100479384	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2751972	chr3:100342493-100493062	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv432469	chr3:100342493-100493062	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	esv2751973	chr3:100354170-100476713	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	esv2751974	chr3:100354170-100476713	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100429800-100475000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:100430400-100473000	Strong transcription	Fetal Thymus	thymus
3	chr3:100431200-100473000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:100432400-100474400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr3:100432800-100473600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:100433000-100472400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr3:100434400-100478200	Weak transcription	Spleen	Spleen
8	chr3:100436000-100474400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:100436600-100471600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr3:100436800-100473000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr3:100437400-100472600	Strong transcription	Dnd41	blood
12	chr3:100437600-100475000	Strong transcription	Placenta	Placenta
13	chr3:100437800-100474400	Strong transcription	Duodenum Mucosa	Duodenum
14	chr3:100438800-100473800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:100441000-100470800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:100441000-100473000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:100441000-100474400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:100441000-100479400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:100443400-100472200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr3:100444600-100471800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr3:100444600-100474400	Strong transcription	HSMM	muscle
22	chr3:100445200-100470400	Strong transcription	HepG2	liver
23	chr3:100445400-100472200	Weak transcription	Psoas Muscle	Psoas
24	chr3:100445400-100473800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:100445400-100475600	Weak transcription	Pancreas	Pancrea
26	chr3:100446000-100470800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:100447200-100471400	Strong transcription	HMEC	breast
28	chr3:100447400-100473600	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr3:100447600-100474200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:100447600-100477200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:100448600-100474400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:100449600-100471000	Strong transcription	HUVEC	blood vessel
33	chr3:100449800-100472600	Strong transcription	Fetal Lung	lung
34	chr3:100450000-100472800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:100450000-100501000	Weak transcription	Esophagus	oesophagus
36	chr3:100450400-100472800	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr3:100452000-100471200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:100453200-100472000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr3:100453200-100479000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr3:100453400-100471400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr3:100453600-100473000	Weak transcription	Stomach Mucosa	stomach
42	chr3:100454000-100471800	Strong transcription	NH-A	brain
43	chr3:100454200-100472600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:100455200-100471200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr3:100456800-100471000	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:100457000-100471200	Weak transcription	Gastric	stomach
47	chr3:100457200-100472400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:100457200-100473600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:100457200-100474800	Strong transcription	NHDF-Ad	bronchial
50	chr3:100457200-100480200	Weak transcription	Brain Angular Gyrus	brain

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