Variant report

Variant	rs72994972
Chromosome Location	chr3:140971931-140971932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:140947498..140951297-chr3:140971742..140973743,3	MCF-7	breast:
2	chr3:140962275..140965128-chr3:140970545..140973245,4	K562	blood:
3	chr3:140966619..140969493-chr3:140970424..140973132,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155893	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16851210	1.00[EUR][1000 genomes]
rs16851215	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16851264	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61539616	1.00[EUR][1000 genomes]
rs61710141	1.00[EUR][1000 genomes]
rs6773280	1.00[EUR][1000 genomes]
rs6779202	1.00[EUR][1000 genomes]
rs72982504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982505	1.00[EUR][1000 genomes]
rs72982506	1.00[EUR][1000 genomes]
rs72982513	1.00[EUR][1000 genomes]
rs72982515	1.00[EUR][1000 genomes]
rs72982516	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982519	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73869568	1.00[EUR][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	nsv460870	chr3:140938546-141005574	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv591892	chr3:140938546-141005574	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv877551	chr3:140970556-141029860	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140951600-140979000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:140955200-140980600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr3:140955400-140985800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:140957400-141001000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:140957800-140973600	Weak transcription	Brain Hippocampus Middle	brain
6	chr3:140959200-140998400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:140960000-140980000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:140961000-140978800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:140961200-140973600	Weak transcription	Brain Angular Gyrus	brain
10	chr3:140961200-140985800	Weak transcription	Adipose Nuclei	Adipose
11	chr3:140961200-141012600	Weak transcription	Aorta	Aorta
12	chr3:140961400-140974200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr3:140961400-140974200	Weak transcription	Brain Substantia Nigra	brain
14	chr3:140961400-140974400	Weak transcription	Placenta	Placenta
15	chr3:140961400-140983200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:140962000-140985800	Weak transcription	Brain Anterior Caudate	brain
17	chr3:140962200-140974200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:140962400-140977000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:140962400-140979200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:140962600-140974200	Weak transcription	Spleen	Spleen
21	chr3:140962600-140974600	Weak transcription	Right Atrium	heart
22	chr3:140962600-140975000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr3:140962600-140978800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:140962600-140979600	Weak transcription	Fetal Intestine Large	intestine
25	chr3:140962600-140980600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:140963400-140982800	Weak transcription	Brain Germinal Matrix	brain
27	chr3:140963600-140978800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr3:140964800-140978000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:140966000-140990200	Weak transcription	Psoas Muscle	Psoas
30	chr3:140966200-140974200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr3:140966200-140979600	Weak transcription	Pancreas	Pancrea
32	chr3:140968000-140976600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:140968200-140979000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr3:140968200-140990000	Weak transcription	Gastric	stomach
35	chr3:140968400-140982800	Weak transcription	Fetal Lung	lung
36	chr3:140968800-140974400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr3:140969200-140972200	Strong transcription	Fetal Stomach	stomach
38	chr3:140969200-140972600	Genic enhancers	Dnd41	blood
39	chr3:140969600-140974400	Weak transcription	Left Ventricle	heart
40	chr3:140969600-140974600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr3:140970000-140972400	Strong transcription	Primary T cells from cord blood	blood
42	chr3:140970000-140974200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr3:140970200-140974000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr3:140970200-140974800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:140970400-140973600	Weak transcription	HSMM	muscle
46	chr3:140970600-140973600	Weak transcription	HSMMtube	muscle
47	chr3:140971000-140972000	Strong transcription	Fetal Intestine Small	intestine
48	chr3:140971000-140974200	Weak transcription	Right Ventricle	heart
49	chr3:140971000-140979000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr3:140971400-140972400	Enhancers	Fetal Brain Female	brain

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