Variant report

Variant	rs60378248
Chromosome Location	chr5:176791300-176791301
allele	A/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	MAZ	chr5:176791184-176791981	GM12878	blood:	n/a	n/a
2	STAT5A	chr5:176790952-176792212	GM12878	blood:	n/a	n/a
3	STAT3	chr5:176791188-176791466	MCF10A-Er-Src	breast:	n/a	n/a
4	NFATC1	chr5:176791087-176792043	GM12878	blood:	n/a	n/a
5	EBF1	chr5:176791173-176792089	GM12878	blood:	n/a	n/a
6	NFIC	chr5:176790739-176792218	GM12878	blood:	n/a	n/a
7	SPI1	chr5:176791182-176791379	GM12891	blood:	n/a	chr5:176791301-176791314
8	RELA	chr5:176791136-176792016	GM18951	blood:	n/a	chr5:176791188-176791197 chr5:176791188-176791197
9	E2F4	chr5:176791234-176791425	MCF10A-Er-Src	breast:	n/a	n/a
10	TBL1XR1	chr5:176790024-176791990	GM12878	blood:	n/a	n/a
11	ELF1	chr5:176791132-176791815	K562	blood:	n/a	chr5:176791475-176791487
12	RUNX3	chr5:176790926-176792142	GM12878	blood:	n/a	n/a
13	BATF	chr5:176791214-176791485	GM12878	blood:	n/a	chr5:176791315-176791325
14	CUX1	chr5:176791216-176791982	GM12878	blood:	n/a	n/a
15	RUNX3	chr5:176790553-176792301	GM12878	blood:	n/a	n/a
16	ZNF143	chr5:176791254-176791995	GM12878	blood:	n/a	n/a
17	CTCF	chr5:176791260-176791410	GM12871	blood:	n/a	n/a
18	RCOR1	chr5:176791215-176791424	K562	blood:	n/a	n/a
19	POLR2A	chr5:176791183-176792107	GM12892	blood:	n/a	n/a
20	ELF1	chr5:176791126-176791713	GM12878	blood:	n/a	chr5:176791475-176791487
21	POLR2A	chr5:176791177-176792137	GM12878	blood:	n/a	n/a
22	PML	chr5:176791202-176792208	GM12878	blood:	n/a	chr5:176791732-176791740 chr5:176791316-176791325 chr5:176791799-176791807 chr5:176792102-176792110
23	STAT3	chr5:176791183-176791488	MCF10A-Er-Src	breast:	n/a	n/a
24	RELA	chr5:176791146-176792039	GM12891	blood:	n/a	chr5:176791188-176791197 chr5:176791188-176791197
25	CHD2	chr5:176791244-176791981	GM12878	blood:	n/a	n/a
26	STAT3	chr5:176791186-176791488	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr5:176791183-176791441	MCF10A-Er-Src	breast:	n/a	chr5:176791318-176791326 chr5:176791318-176791325 chr5:176791316-176791328
28	POLR2A	chr5:176790854-176796544	K562	blood:	n/a	n/a
29	JUND	chr5:176791185-176791447	K562	blood:	n/a	chr5:176791318-176791326 chr5:176791318-176791325 chr5:176791316-176791328
30	RELA	chr5:176790761-176792037	GM18505	blood:	n/a	chr5:176791188-176791197 chr5:176791188-176791197
31	STAT3	chr5:176791128-176791551	MCF10A-Er-Src	breast:	n/a	n/a
32	FOXM1	chr5:176790907-176792289	GM12878	blood:	n/a	n/a
33	MTA3	chr5:176790610-176792326	GM12878	blood:	n/a	n/a
34	RELA	chr5:176790970-176792183	GM12878	blood:	n/a	chr5:176791188-176791197 chr5:176791188-176791197
35	BCLAF1	chr5:176791134-176792035	GM12878	blood:	n/a	n/a
36	IKZF1	chr5:176791012-176792046	GM12878	blood:	n/a	n/a
37	REST	chr5:176791197-176791399	K562	blood:	n/a	n/a
38	POLR2A	chr5:176791225-176792161	GM12892	blood:	n/a	n/a
39	POLR2A	chr5:176791255-176791622	K562	blood:	n/a	n/a
40	BATF	chr5:176791017-176791977	GM12878	blood:	n/a	chr5:176791315-176791325
41	FOXM1	chr5:176791279-176792134	GM12878	blood:	n/a	n/a
42	NFIC	chr5:176791254-176792063	GM12878	blood:	n/a	n/a
43	IRF4	chr5:176791215-176792036	GM12878	blood:	n/a	n/a
44	FOS	chr5:176791289-176791416	MCF10A-Er-Src	breast:	n/a	chr5:176791318-176791326 chr5:176791318-176791325 chr5:176791316-176791328
45	EBF1	chr5:176791226-176791987	GM12878	blood:	n/a	n/a
46	FOS	chr5:176791222-176791449	MCF10A-Er-Src	breast:	n/a	chr5:176791318-176791326 chr5:176791318-176791325 chr5:176791316-176791328

No.	Distal block	Cell Line	Cell type
1	chr5:176791048..176792992-chr5:176793977..176797155,3	MCF-7	breast:
2	chr5:176789991..176791562-chr5:176798785..176800787,2	MCF-7	breast:
3	chr5:176790570..176799313-chr5:176814495..176820818,12	K562	blood:
4	chr5:176777771..176779598-chr5:176788925..176791547,2	MCF-7	breast:
5	chr5:176790381..176792483-chr5:176829532..176831640,2	K562	blood:
6	chr5:176784586..176787355-chr5:176790580..176793407,2	MCF-7	breast:
7	chr5:176736978..176739328-chr5:176789102..176791622,2	K562	blood:
8	chr5:176789862..176792156-chr5:176897262..176900201,2	MCF-7	breast:
9	chr5:176788793..176795017-chr5:176827718..176833594,7	K562	blood:
10	chr5:176729747..176732269-chr5:176790065..176794184,3	MCF-7	breast:

Variant related genes	Relation type
RGS14	TF binding region
ENSG00000213347	Chromatin interaction
ENSG00000198055	Chromatin interaction
ENSG00000131183	Chromatin interaction
ENSG00000169230	Chromatin interaction
ENSG00000169228	Chromatin interaction
ENSG00000169223	Chromatin interaction
ENSG00000131187	Chromatin interaction
ENSG00000113758	Chromatin interaction
ENSG00000169220	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58963513	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830414	chr5:176491721-176883418	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv993426	chr5:176545446-176801610	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2758030	chr5:176618317-176802444	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2759396	chr5:176618317-176802444	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv428132	chr5:176618317-176802444	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
7	nsv600364	chr5:176726635-176859848	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
8	nsv883158	chr5:176726635-176931706	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
9	nsv471057	chr5:176737309-176896412	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
10	nsv883160	chr5:176740996-176952919	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
11	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
12	nsv883161	chr5:176754722-176958397	Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
13	nsv1020334	chr5:176779108-176954933	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer 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 target site	114 gene(s)	inside rSNPs	diseases
14	nsv883162	chr5:176780545-176806636	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv883163	chr5:176780545-176885499	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
16	nsv883164	chr5:176780545-177003616	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
17	nsv462563	chr5:176784512-176896412	Genic enhancers Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
18	nsv600365	chr5:176784512-176896412	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers 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 target site	82 gene(s)	inside rSNPs	diseases
19	nsv883165	chr5:176785109-176806636	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	esv1816147	chr5:176787037-176966509	Active TSS Weak transcription Flanking Active TSS Strong transcription 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 target site	111 gene(s)	inside rSNPs	diseases
21	nsv5146	chr5:176788887-176806525	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:176785800-176793200	Weak transcription	Small Intestine	intestine
2	chr5:176789600-176791600	Enhancers	Spleen	Spleen
3	chr5:176789600-176791800	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr5:176790200-176791600	Enhancers	Primary B cells from cord blood	blood
5	chr5:176790200-176791600	Enhancers	Primary B cells from peripheral blood	blood
6	chr5:176790200-176792000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:176790200-176793600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr5:176790400-176791600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:176790400-176791600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr5:176790400-176792600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:176790400-176792600	Weak transcription	Gastric	stomach
12	chr5:176790400-176793000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:176790400-176793200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr5:176790400-176793200	Weak transcription	Left Ventricle	heart
15	chr5:176790400-176793200	Weak transcription	Lung	lung
16	chr5:176790400-176793200	Weak transcription	Ovary	ovary
17	chr5:176790400-176794400	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr5:176790600-176791400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:176790600-176791400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:176790600-176791400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:176790600-176791400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:176790600-176791400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr5:176790600-176791400	Enhancers	NHDF-Ad	bronchial
24	chr5:176790600-176791600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr5:176790600-176791600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:176790600-176791600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:176790600-176791600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:176790600-176791600	Enhancers	Colonic Mucosa	Colon
29	chr5:176790600-176791600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr5:176790600-176791600	Enhancers	HUVEC	blood vessel
31	chr5:176790600-176791800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr5:176790600-176791800	Enhancers	Fetal Thymus	thymus
33	chr5:176790600-176791800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr5:176790600-176792000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:176790600-176792000	Enhancers	Duodenum Mucosa	Duodenum
36	chr5:176790600-176792600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:176790600-176792800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:176790600-176793000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr5:176790600-176793000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:176790600-176793000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:176790600-176793000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr5:176790600-176793200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:176790600-176793200	Weak transcription	Right Atrium	heart
44	chr5:176790600-176793200	Weak transcription	Right Ventricle	heart
45	chr5:176790600-176793400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:176790600-176793400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr5:176790600-176793400	Weak transcription	HSMM	muscle
48	chr5:176790600-176793600	Enhancers	Liver	Liver
49	chr5:176790600-176793600	Weak transcription	Psoas Muscle	Psoas
50	chr5:176790800-176791400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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