Variant report

Variant	rs72932910
Chromosome Location	chr3:50240933-50240934
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr3:50240600-50241341	HepG2	liver:	n/a	n/a
2	HNF4A	chr3:50240901-50241166	HepG2	liver:	n/a	n/a
3	ZBTB7A	chr3:50240779-50241361	HepG2	liver:	n/a	n/a
4	JUND	chr3:50240750-50241162	HepG2	liver:	n/a	n/a
5	POLR2A	chr3:50238655-50241174	HepG2	liver:	n/a	n/a
6	HDAC2	chr3:50240792-50241217	HepG2	liver:	n/a	n/a
7	TAF1	chr3:50240750-50241140	HepG2	liver:	n/a	n/a
8	FOXA2	chr3:50240822-50241169	HepG2	liver:	n/a	chr3:50241013-50241025
9	SP1	chr3:50240736-50241303	HepG2	liver:	n/a	chr3:50241027-50241037 chr3:50241027-50241036 chr3:50241028-50241037 chr3:50241026-50241038 chr3:50241026-50241038 chr3:50241027-50241041
10	REST	chr3:50240773-50241157	HepG2	liver:	n/a	chr3:50241027-50241040 chr3:50240887-50240900
11	POLR2A	chr3:50240703-50241022	HepG2	liver:	n/a	n/a
12	YY1	chr3:50240737-50241265	HepG2	liver:	n/a	n/a
13	TBP	chr3:50240643-50241236	HepG2	liver:	n/a	n/a
14	MAZ	chr3:50240746-50241220	HepG2	liver:	n/a	n/a
15	POLR2A	chr3:50240565-50241227	HepG2	liver:	n/a	n/a
16	MXI1	chr3:50240736-50241197	HepG2	liver:	n/a	n/a
17	POLR2A	chr3:50238991-50241286	HepG2	liver:	n/a	n/a
18	POLR2A	chr3:50240751-50241192	HepG2	liver:	n/a	n/a
19	MAFK	chr3:50240930-50241222	HepG2	liver:	n/a	n/a
20	EP300	chr3:50240772-50241240	HepG2	liver:	n/a	chr3:50240982-50240992
21	FOXA1	chr3:50240695-50241258	HepG2	liver:	n/a	chr3:50241013-50241025
22	MYC	chr3:50240872-50241101	HepG2	liver:	n/a	n/a
23	EP300	chr3:50240783-50241314	HepG2	liver:	n/a	chr3:50240982-50240992
24	MAX	chr3:50240830-50241088	HepG2	liver:	n/a	n/a
25	POLR2A	chr3:50239125-50241397	HepG2	liver:	n/a	n/a
26	HEY1	chr3:50240606-50241313	HepG2	liver:	n/a	n/a
27	NFIC	chr3:50240734-50241224	HepG2	liver:	n/a	n/a
28	POLR2A	chr3:50240660-50241286	HepG2	liver:	n/a	n/a
29	TAF1	chr3:50240719-50241296	HepG2	liver:	n/a	n/a
30	RCOR1	chr3:50240438-50241191	HepG2	liver:	n/a	n/a
31	CHD2	chr3:50240677-50241443	HepG2	liver:	n/a	n/a
32	HEY1	chr3:50240409-50241392	HepG2	liver:	n/a	n/a
33	RFX5	chr3:50240813-50241204	HepG2	liver:	n/a	chr3:50241002-50241017 chr3:50241005-50241014
34	BRCA1	chr3:50240844-50241108	HepG2	liver:	n/a	n/a
35	CEBPD	chr3:50240780-50241278	HepG2	liver:	n/a	n/a
36	SMC3	chr3:50240915-50241066	HepG2	liver:	n/a	n/a
37	FOXA1	chr3:50240736-50241172	HepG2	liver:	n/a	chr3:50241013-50241025
38	MAX	chr3:50238897-50241340	HepG2	liver:	n/a	n/a
39	RAD21	chr3:50240889-50241058	HepG2	liver:	n/a	n/a
40	POLR2A	chr3:50240739-50241178	HepG2	liver:	n/a	n/a
41	MYBL2	chr3:50240730-50241299	HepG2	liver:	n/a	n/a
42	HNF4A	chr3:50240849-50241158	HepG2	liver:	n/a	n/a
43	ZBTB7A	chr3:50240893-50241349	HepG2	liver:	n/a	n/a
44	NFIC	chr3:50240697-50241236	HepG2	liver:	n/a	n/a
45	FOXA1	chr3:50240768-50241209	HepG2	liver:	n/a	chr3:50241013-50241025
46	EP300	chr3:50240774-50241213	HepG2	liver:	n/a	chr3:50240982-50240992

No.	Distal block	Cell Line	Cell type
1	chr3:50238675..50240953-chr3:50253455..50256694,3	K562	blood:
2	chr3:50239764..50242755-chr3:50243671..50247708,3	K562	blood:
3	chr3:50238536..50240685-chr3:50240705..50242293,2	MCF-7	breast:
4	chr3:50239059..50241014-chr3:50241192..50243517,2	K562	blood:

Variant related genes	Relation type
SLC38A3	TF binding region
ENSG00000188338	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs35926013	1.00[AMR][1000 genomes]
rs57466955	1.00[AMR][1000 genomes]
rs58976377	1.00[AMR][1000 genomes]
rs61669412	1.00[AMR][1000 genomes]
rs6777712	1.00[AMR][1000 genomes]
rs6797308	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834690	chr3:50101835-50267584	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer 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 miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv515986	chr3:50104307-50267584	Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1001775	chr3:50129479-50311666	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv876768	chr3:50144951-50267584	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv1013949	chr3:50151712-50339163	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv590250	chr3:50153356-50332697	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv876769	chr3:50155468-50408398	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
10	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
11	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
12	nsv590251	chr3:50158774-50337422	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
13	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
14	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription 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 miRNA target site	103 gene(s)	inside rSNPs	diseases
15	nsv523560	chr3:50172397-50339163	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
16	nsv460529	chr3:50178011-50324672	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
17	nsv460530	chr3:50178011-50324672	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
18	nsv590252	chr3:50178011-50324672	Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
19	nsv1002916	chr3:50187646-50311666	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
20	nsv536564	chr3:50187646-50311666	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
21	nsv1014256	chr3:50187646-50339163	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
22	nsv536565	chr3:50187646-50339163	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
23	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
24	nsv590253	chr3:50196418-50337422	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
25	esv2757870	chr3:50198478-50371377	Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
26	esv2759148	chr3:50198478-50371377	Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
27	nsv834692	chr3:50198485-50393464	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
28	nsv876771	chr3:50225568-50247824	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50210400-50242400	Weak transcription	Right Atrium	heart
2	chr3:50238200-50242200	Enhancers	Liver	Liver
3	chr3:50238200-50242400	Enhancers	Pancreas	Pancrea
4	chr3:50238400-50241600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:50238600-50242200	Flanking Active TSS	HepG2	liver
6	chr3:50238800-50241000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:50238800-50242400	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr3:50239000-50242600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr3:50239800-50241200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:50239800-50241800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
11	chr3:50240000-50241000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr3:50240000-50242200	Bivalent Enhancer	Fetal Stomach	stomach
13	chr3:50240000-50242600	Enhancers	HSMMtube	muscle
14	chr3:50240200-50241000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr3:50240200-50242000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:50240200-50242200	Enhancers	Brain Anterior Caudate	brain
17	chr3:50240200-50242200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
18	chr3:50240400-50241200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:50240400-50242400	Enhancers	HSMM	muscle
20	chr3:50240600-50241000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:50240600-50241200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:50240600-50241600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:50240600-50241800	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:50240600-50242200	Enhancers	Gastric	stomach
25	chr3:50240600-50242200	Weak transcription	Ovary	ovary
26	chr3:50240600-50242400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:50240800-50241200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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