Variant report

Variant	rs62344646
Chromosome Location	chr4:152019992-152019993
allele	C/G
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	ELF1	chr4:152019970-152021556	GM12878	blood:	n/a	chr4:152020692-152020705
2	RUNX3	chr4:152019923-152021378	GM12878	blood:	n/a	chr4:152020520-152020537
3	PML	chr4:152019251-152021565	GM12878	blood:	n/a	n/a
4	NFIC	chr4:152019097-152021480	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:152019972-152022054	GM12878	blood:	n/a	n/a
6	FOXM1	chr4:152019939-152021491	GM12878	blood:	n/a	n/a
7	POLR2A	chr4:152019962-152021642	GM12892	blood:	n/a	n/a
8	FOXM1	chr4:152019259-152021332	GM12878	blood:	n/a	n/a
9	POLR2A	chr4:152019349-152025502	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:152019346-152021923	GM18505	blood:	n/a	n/a
11	POLR2A	chr4:152019356-152021510	GM12892	blood:	n/a	n/a
12	CEBPB	chr4:152019972-152021154	GM12878	blood:	n/a	n/a
13	ATF2	chr4:152019985-152021608	GM12878	blood:	n/a	n/a
14	CREB1	chr4:152019980-152021238	GM12878	blood:	n/a	n/a
15	POLR2A	chr4:152018984-152022925	GM12891	blood:	n/a	n/a
16	POLR2A	chr4:152019403-152022062	GM19099	blood:	n/a	n/a
17	MTA3	chr4:152019831-152021664	GM12878	blood:	n/a	n/a
18	MTA3	chr4:152019977-152021538	GM12878	blood:	n/a	n/a
19	POLR2A	chr4:152019091-152021444	GM19193	blood:	n/a	n/a
20	POLR2A	chr4:152019921-152021649	HL-60	blood:	n/a	n/a
21	STAT5A	chr4:152019200-152021633	GM12878	blood:	n/a	n/a
22	ELF1	chr4:152019443-152020124	GM12878	blood:	n/a	n/a
23	EGR1	chr4:152019964-152021585	HCT-116	colon:	n/a	chr4:152020735-152020745 chr4:152020477-152020487 chr4:152020737-152020750 chr4:152020475-152020489 chr4:152020475-152020488 chr4:152020738-152020747 chr4:152020474-152020489 chr4:152020476-152020487 chr4:152020615-152020625 chr4:152020737-152020750
24	RUNX3	chr4:152019954-152021463	GM12878	blood:	n/a	chr4:152020520-152020537
25	POLR2A	chr4:152019250-152022416	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:151932388..151938493-chr4:152018908..152023577,12	K562	blood:
2	chr4:151932388..151938967-chr4:152018772..152026013,16	K562	blood:
3	chr4:152019186..152022865-chr4:152245245..152246932,3	MCF-7	breast:
4	chr4:151935351..151938924-chr4:152018981..152022393,11	MCF-7	breast:
5	chr4:151934961..151939391-chr4:152019005..152023866,18	MCF-7	breast:
6	chr4:152019364..152021476-chr4:152328335..152331101,2	MCF-7	breast:
7	chr4:152019971..152022516-chr4:152039598..152042483,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201264	TF binding region
RPS3A	TF binding region
SNORD73A	TF binding region
ENSG00000109686	Chromatin interaction
ENSG00000164142	Chromatin interaction
ENSG00000198589	Chromatin interaction
ENSG00000251611	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10008077	1.00[ASN][1000 genomes]
rs1148642	1.00[ASN][1000 genomes]
rs1201202	1.00[ASN][1000 genomes]
rs17027158	1.00[ASN][1000 genomes]
rs17440394	1.00[ASN][1000 genomes]
rs57218449	1.00[ASN][1000 genomes]
rs57518605	1.00[ASN][1000 genomes]
rs58328072	1.00[ASN][1000 genomes]
rs59572961	1.00[ASN][1000 genomes]
rs60102523	1.00[ASN][1000 genomes]
rs60391819	1.00[ASN][1000 genomes]
rs61668839	1.00[ASN][1000 genomes]
rs62344564	1.00[ASN][1000 genomes]
rs62344565	1.00[ASN][1000 genomes]
rs62344567	1.00[ASN][1000 genomes]
rs62344569	1.00[ASN][1000 genomes]
rs62344571	1.00[ASN][1000 genomes]
rs62344572	1.00[ASN][1000 genomes]
rs62344573	1.00[ASN][1000 genomes]
rs62344578	1.00[ASN][1000 genomes]
rs62344579	1.00[ASN][1000 genomes]
rs62344582	1.00[ASN][1000 genomes]
rs62344596	1.00[ASN][1000 genomes]
rs62344597	1.00[ASN][1000 genomes]
rs62344598	1.00[ASN][1000 genomes]
rs62344605	1.00[ASN][1000 genomes]
rs62346567	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346569	1.00[AFR][1000 genomes]
rs6819868	1.00[ASN][1000 genomes]
rs73859291	1.00[ASN][1000 genomes]
rs73859295	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1018404	chr4:151664438-152067409	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1017850	chr4:151664438-152071876	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv2763837	chr4:151664438-152071888	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv870257	chr4:151665349-152072867	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1015387	chr4:151673751-152071876	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv526976	chr4:151675819-152055073	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv1025077	chr4:151682266-152035733	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv537303	chr4:151682266-152035733	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv949066	chr4:151693149-152069566	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv949002	chr4:151693149-152095109	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
14	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv1031720	chr4:151708502-152071876	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
16	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
17	nsv1031516	chr4:151718614-152065644	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
18	nsv537304	chr4:151718614-152065644	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
19	nsv1022884	chr4:151718814-152065505	Strong transcription Weak transcription Enhancers Flanking Active TSS 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	35 gene(s)	inside rSNPs	diseases
20	nsv537305	chr4:151718814-152065505	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
21	nsv595690	chr4:151788955-152109552	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
22	nsv1026416	chr4:151847403-152105879	Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
23	nsv1018797	chr4:151913585-152073419	Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
24	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
25	nsv1016220	chr4:151997139-152164126	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
26	nsv537306	chr4:151997139-152164126	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152009400-152020000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:152014400-152020000	Weak transcription	Stomach Mucosa	stomach
3	chr4:152014400-152020400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:152014600-152020000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:152014600-152020000	Weak transcription	Fetal Intestine Small	intestine
6	chr4:152015600-152020000	Weak transcription	Fetal Intestine Large	intestine
7	chr4:152017200-152020000	Weak transcription	HepG2	liver
8	chr4:152017400-152020000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:152018600-152020200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:152018800-152020000	Enhancers	Primary hematopoietic stem cells	blood
11	chr4:152019000-152020000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:152019000-152020400	Flanking Active TSS	GM12878-XiMat	blood
13	chr4:152019000-152020600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:152019200-152020000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:152019200-152020000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr4:152019200-152020200	Enhancers	Fetal Thymus	thymus
17	chr4:152019200-152020400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr4:152019200-152020600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:152019400-152020000	Enhancers	Primary B cells from cord blood	blood
20	chr4:152019400-152020000	Active TSS	Adipose Nuclei	Adipose
21	chr4:152019400-152020000	Enhancers	K562	blood
22	chr4:152019400-152020200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:152019400-152020400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr4:152019400-152021000	Active TSS	A549	lung
25	chr4:152019600-152020000	Enhancers	Primary T cells fromperipheralblood	blood
26	chr4:152019600-152020000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:152019600-152020200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:152019600-152020200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:152019600-152020200	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr4:152019600-152020400	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr4:152019800-152020000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:152019800-152020000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr4:152019800-152020000	Enhancers	Primary T cells from cord blood	blood
34	chr4:152019800-152020000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr4:152019800-152020000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr4:152019800-152020000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr4:152019800-152020000	Active TSS	Duodenum Mucosa	Duodenum
38	chr4:152019800-152020000	Enhancers	Thymus	Thymus
39	chr4:152019800-152020000	Enhancers	Dnd41	blood
40	chr4:152019800-152020000	Enhancers	HMEC	breast
41	chr4:152019800-152020000	Enhancers	NHEK	skin
42	chr4:152019800-152020200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr4:152019800-152020400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr4:152019800-152021800	Active TSS	Rectal Mucosa Donor 31	rectum

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