Variant report

Variant	rs567362674
Chromosome Location	chr14:55879753-55879754
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	TBP	chr14:55879299-55879791	Hela-S3	cervix:	n/a	n/a
2	FOS	chr14:55879463-55879795	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr14:55877995-55879786	Hela-S3	cervix:	n/a	n/a
4	RCOR1	chr14:55879437-55879840	Hela-S3	cervix:	n/a	n/a
5	HDAC2	chr14:55879353-55879810	MCF-7	breast:	n/a	n/a
6	ZNF217	chr14:55879483-55879798	MCF-7	breast:	n/a	n/a
7	NR2F2	chr14:55879245-55879860	MCF-7	breast:	n/a	n/a
8	FOS	chr14:55879431-55879796	MCF10A-Er-Src	breast:	n/a	n/a
9	JUND	chr14:55879278-55879951	MCF-7	breast:	n/a	n/a
10	NR2F2	chr14:55879175-55879957	MCF-7	breast:	n/a	n/a
11	GATA3	chr14:55878071-55880708	MCF-7	breast:	n/a	chr14:55878107-55878116
12	RFX5	chr14:55879409-55879799	Hela-S3	cervix:	n/a	n/a
13	FOXM1	chr14:55878232-55879785	MCF-7	breast:	n/a	n/a
14	POLR2A	chr14:55879381-55879771	Hela-S3	cervix:	n/a	n/a
15	JUND	chr14:55879387-55879923	MCF-7	breast:	n/a	n/a
16	GATA3	chr14:55879551-55879802	MCF-7	breast:	n/a	n/a
17	RAD21	chr14:55879388-55879813	Hela-S3	cervix:	n/a	n/a
18	GATA3	chr14:55879321-55879997	MCF-7	breast:	n/a	n/a
19	FOSL2	chr14:55879341-55879930	MCF-7	breast:	n/a	n/a
20	JUND	chr14:55879372-55879818	Hela-S3	cervix:	n/a	n/a
21	FOSL2	chr14:55879347-55879924	MCF-7	breast:	n/a	n/a
22	MAX	chr14:55878204-55879797	MCF-7	breast:	n/a	chr14:55879180-55879193 chr14:55879182-55879191 chr14:55879771-55879779 chr14:55879180-55879193 chr14:55878562-55878571
23	EP300	chr14:55879273-55879808	MCF-7	breast:	n/a	n/a
24	MXI1	chr14:55878125-55879867	SK-N-SH	brain:	n/a	chr14:55878561-55878570
25	E2F4	chr14:55879596-55879796	MCF10A-Er-Src	breast:	n/a	n/a
26	HCFC1	chr14:55877906-55880028	Hela-S3	cervix:	n/a	n/a
27	SIN3AK20	chr14:55878031-55879873	MCF-7	breast:	n/a	n/a
28	TCF7L2	chr14:55879529-55879963	MCF-7	breast:	n/a	n/a
29	POLR2A	chr14:55879336-55879759	Hela-S3	cervix:	n/a	n/a
30	FOS	chr14:55879442-55879804	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr14:55879468-55879815	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr14:55879401-55879794	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr14:55878102-55879772	SK-N-MC	brain:	n/a	n/a
34	POLR2A	chr14:55877644-55879780	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:55878684..55880292-chr14:55881926..55883661,2	K562	blood:
2	chr14:55736296..55738259-chr14:55878149..55880015,2	MCF-7	breast:
3	chr14:55832090..55833883-chr14:55878712..55880700,2	MCF-7	breast:
4	chr14:55736665..55740457-chr14:55875135..55883763,10	K562	blood:

Variant related genes	Relation type
ATG14	TF binding region
ENSG00000178974	Chromatin interaction
ENSG00000258413	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS 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	12 gene(s)	inside rSNPs	diseases
2	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised 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 target site	20 gene(s)	inside rSNPs	diseases
3	nsv901959	chr14:55853724-55916225	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
4	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv564874	chr14:55879685-56027815	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55878800-55879800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr14:55878800-55879800	Flanking Active TSS	Hela-S3	cervix
3	chr14:55878800-55880200	Flanking Active TSS	NHEK	skin
4	chr14:55879000-55879800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:55879000-55880200	Enhancers	Stomach Mucosa	stomach
6	chr14:55879200-55879800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:55879200-55880000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr14:55879200-55885200	Weak transcription	Right Ventricle	heart
9	chr14:55879400-55879800	Active TSS	Primary B cells from cord blood	blood
10	chr14:55879400-55879800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:55879400-55879800	Active TSS	Brain Anterior Caudate	brain
12	chr14:55879400-55879800	Enhancers	K562	blood
13	chr14:55879400-55880200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr14:55879400-55880400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:55879400-55880400	Weak transcription	Liver	Liver
16	chr14:55879400-55880600	Weak transcription	Psoas Muscle	Psoas
17	chr14:55879400-55883200	Weak transcription	Fetal Intestine Large	intestine
18	chr14:55879400-55883400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr14:55879400-55883400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr14:55879400-55883400	Weak transcription	GM12878-XiMat	blood
21	chr14:55879600-55879800	Enhancers	Duodenum Mucosa	Duodenum
22	chr14:55879600-55879800	Enhancers	HMEC	breast
23	chr14:55879600-55880400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:55879600-55881400	Weak transcription	Fetal Heart	heart
25	chr14:55879600-55884000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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