Variant report

Variant	rs72899368
Chromosome Location	chr3:46738817-46738818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46734988..46739707-chr3:46741491..46746249,8	K562	blood:
2	chr3:46738781..46740669-chr3:46750489..46752316,2	K562	blood:
3	chr3:46732167..46733968-chr3:46737534..46740232,2	MCF-7	breast:
4	chr3:46733050..46735013-chr3:46736523..46739104,3	K562	blood:
5	chr3:46736085..46739130-chr3:47020544..47022434,3	MCF-7	breast:
6	chr3:46737124..46738860-chr3:46743430..46745835,2	K562	blood:
7	chr3:46735218..46737600-chr3:46738787..46741218,2	K562	blood:

Variant related genes	Relation type
ENSG00000181585	Chromatin interaction
ENSG00000160799	Chromatin interaction
ENSG00000160796	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs60544005	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv876739	chr3:46656980-46744966	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv876740	chr3:46656980-46748453	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv876741	chr3:46663372-46763839	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv516623	chr3:46680063-46852679	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv2757869	chr3:46680452-46972489	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv2759147	chr3:46680452-46972489	Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	esv1804680	chr3:46704348-46869911	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv876742	chr3:46705369-46763839	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
11	nsv536555	chr3:46706571-46817963	Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv536556	chr3:46706571-46849443	Genic enhancers Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv536557	chr3:46706571-46853434	Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	esv1797503	chr3:46708712-46760713	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
16	nsv876743	chr3:46716523-46753577	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
17	nsv876744	chr3:46716523-46763839	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
18	nsv460525	chr3:46728659-46790397	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
19	nsv590179	chr3:46728659-46790397	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
20	esv1847964	chr3:46729757-46753976	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46735000-46739000	Enhancers	Spleen	Spleen
2	chr3:46735400-46739000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr3:46735600-46739000	Enhancers	Liver	Liver
4	chr3:46735600-46739000	Enhancers	Right Atrium	heart
5	chr3:46735600-46739200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr3:46735600-46739200	Enhancers	Left Ventricle	heart
7	chr3:46735600-46739200	Enhancers	Lung	lung
8	chr3:46735600-46739400	Enhancers	Psoas Muscle	Psoas
9	chr3:46735600-46742600	Weak transcription	Aorta	Aorta
10	chr3:46735800-46739000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr3:46735800-46739000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr3:46735800-46739200	Enhancers	Fetal Muscle Leg	muscle
13	chr3:46735800-46739400	Enhancers	Right Ventricle	heart
14	chr3:46735800-46742000	Weak transcription	Fetal Brain Male	brain
15	chr3:46736200-46739000	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr3:46736200-46739200	Enhancers	Colon Smooth Muscle	Colon
17	chr3:46736200-46739400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr3:46736800-46739800	Enhancers	Fetal Muscle Trunk	muscle
19	chr3:46737000-46739000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:46737200-46741400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:46737200-46741800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:46737400-46740000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr3:46737600-46739200	Enhancers	Adipose Nuclei	Adipose
24	chr3:46737600-46739400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr3:46737600-46741400	Weak transcription	Stomach Mucosa	stomach
26	chr3:46737800-46739000	Weak transcription	Small Intestine	intestine
27	chr3:46737800-46739200	Enhancers	Primary T cells from cord blood	blood
28	chr3:46737800-46741000	Weak transcription	Primary B cells from cord blood	blood
29	chr3:46737800-46741200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr3:46737800-46741400	Weak transcription	Brain Substantia Nigra	brain
31	chr3:46737800-46741400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr3:46738000-46741200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:46738000-46741200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr3:46738000-46741400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr3:46738000-46741400	Weak transcription	Pancreas	Pancrea
36	chr3:46738000-46741600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr3:46738000-46742400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr3:46738000-46742800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr3:46738000-46742800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr3:46738000-46743000	Weak transcription	Fetal Lung	lung
41	chr3:46738200-46740800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr3:46738200-46741400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:46738400-46741000	Weak transcription	HUVEC	blood vessel
44	chr3:46738400-46741400	Weak transcription	Ovary	ovary
45	chr3:46738400-46741800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr3:46738400-46742000	Weak transcription	Esophagus	oesophagus
47	chr3:46738400-46743200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr3:46738600-46740800	Weak transcription	Brain Hippocampus Middle	brain
49	chr3:46738600-46740800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr3:46738600-46741000	Weak transcription	Colonic Mucosa	Colon

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