Variant report

Variant	rs72964039
Chromosome Location	chr3:52078783-52078784
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52075553..52077141-chr3:52077699..52080680,2	MCF-7	breast:
2	chr3:52060421..52063278-chr3:52077239..52079436,2	K562	blood:
3	chr3:52073750..52075250-chr3:52077186..52079119,2	MCF-7	breast:
4	chr3:52060421..52065315-chr3:52077239..52080916,4	K562	blood:
5	chr3:52072120..52075086-chr3:52077949..52079553,2	K562	blood:
6	chr3:52077892..52079847-chr3:52080984..52082911,3	MCF-7	breast:
7	chr3:52073586..52075910-chr3:52075933..52079449,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12495536	0.85[AFR][1000 genomes]
rs13315877	0.82[EUR][1000 genomes]
rs13316105	0.90[AFR][1000 genomes]
rs13320599	0.82[EUR][1000 genomes]
rs4687607	0.82[AFR][1000 genomes]
rs7611498	0.82[ASN][1000 genomes]
rs7644325	0.85[AFR][1000 genomes]
rs9813222	0.82[EUR][1000 genomes]
rs9833784	0.82[EUR][1000 genomes]
rs9851576	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1003453	chr3:51962081-52099441	Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv1804090	chr3:51962081-52140591	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	esv1835339	chr3:51962081-52140591	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	nsv1003581	chr3:51973395-52108645	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv1001062	chr3:51973395-52134638	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv876780	chr3:51981021-52101799	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
9	nsv876786	chr3:52041566-52236762	Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv984541	chr3:52055970-52285682	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	esv1792042	chr3:52070955-52091254	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
12	esv1793040	chr3:52070955-52091254	Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
13	esv1797975	chr3:52070955-52091254	Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
14	esv1798814	chr3:52070955-52091254	Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
15	esv1797189	chr3:52070955-52101799	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
16	esv1798365	chr3:52070955-52101799	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription 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	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52071200-52079600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr3:52071600-52079400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr3:52071600-52080000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr3:52071800-52079400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:52074000-52083200	Weak transcription	Pancreas	Pancrea
6	chr3:52074200-52079400	Weak transcription	NH-A	brain
7	chr3:52074400-52079200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:52074400-52079800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:52074400-52083200	Weak transcription	Liver	Liver
10	chr3:52074600-52079200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:52075200-52080600	Weak transcription	Gastric	stomach
12	chr3:52075400-52079200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:52075400-52079200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr3:52075400-52079400	Weak transcription	Left Ventricle	heart
15	chr3:52075400-52079400	Weak transcription	A549	lung
16	chr3:52075400-52079600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:52075400-52080000	Weak transcription	Psoas Muscle	Psoas
18	chr3:52075400-52080400	Weak transcription	Stomach Mucosa	stomach
19	chr3:52075600-52080000	Weak transcription	Fetal Heart	heart
20	chr3:52075800-52079200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:52075800-52079400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr3:52075800-52079400	Weak transcription	Spleen	Spleen
23	chr3:52075800-52080000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:52075800-52080400	Weak transcription	Fetal Lung	lung
25	chr3:52075800-52081000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:52076000-52079400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr3:52076000-52081400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr3:52076000-52081600	Weak transcription	Fetal Intestine Small	intestine
29	chr3:52076000-52086400	Weak transcription	Fetal Brain Male	brain
30	chr3:52076200-52079200	Weak transcription	Lung	lung
31	chr3:52076600-52081600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr3:52077200-52080800	Enhancers	Brain Hippocampus Middle	brain
33	chr3:52077200-52081800	Enhancers	Brain Substantia Nigra	brain
34	chr3:52077400-52078800	Enhancers	Fetal Muscle Leg	muscle
35	chr3:52077400-52079600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:52077400-52080000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:52077400-52081600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr3:52077400-52081800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr3:52077400-52082400	Enhancers	Brain Cingulate Gyrus	brain
40	chr3:52077400-52082400	Enhancers	Esophagus	oesophagus
41	chr3:52077600-52078800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr3:52077600-52080400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr3:52077600-52081800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:52077600-52083400	Enhancers	Brain Angular Gyrus	brain
45	chr3:52077800-52079600	Enhancers	NHEK	skin
46	chr3:52077800-52080800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr3:52077800-52082400	Weak transcription	Fetal Intestine Large	intestine
48	chr3:52077800-52082400	Enhancers	Placenta Amnion	Placenta Amnion
49	chr3:52077800-52083400	Weak transcription	Primary B cells from cord blood	blood
50	chr3:52078000-52078800	Enhancers	Cortex derived primary cultured neurospheres	brain

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