Variant report

Variant	rs567030464
Chromosome Location	chr14:31435345-31435346
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	FOS	chr14:31435022-31435388	MCF10A-Er-Src	breast:	n/a	n/a
2	E2F4	chr14:31435142-31435348	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr14:31435124-31435417	HCT-116	colon:	n/a	n/a
4	POLR2A	chr14:31435014-31435495	HCT-116	colon:	n/a	n/a
5	USF1	chr14:31435144-31435863	HCT-116	colon:	n/a	n/a
6	FOS	chr14:31435025-31435355	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr14:31435047-31435358	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr14:31435329-31435438	ProgFib	skin:	n/a	n/a
9	SETDB1	chr14:31435248-31436013	U2OS	brain:	n/a	n/a
10	NFYB	chr14:31435244-31435444	K562	blood:	n/a	n/a
11	FOS	chr14:31435022-31436004	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31428811..31431049-chr14:31434848..31436931,2	MCF-7	breast:

Variant related genes	Relation type
STRN3	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1231	chr14:31424602-31444721	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	esv3429977	chr14:31435166-31441360	Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31360200-31435600	Weak transcription	Gastric	stomach
3	chr14:31362400-31435400	Weak transcription	Colonic Mucosa	Colon
4	chr14:31365800-31435600	Weak transcription	Right Ventricle	heart
5	chr14:31377800-31435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:31378000-31439000	Weak transcription	Psoas Muscle	Psoas
7	chr14:31378800-31435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:31410600-31435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:31415000-31437200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:31416000-31435400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:31416000-31435400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr14:31416000-31435600	Weak transcription	NHLF	lung
13	chr14:31416200-31435600	Weak transcription	Thymus	Thymus
14	chr14:31416600-31435600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:31416600-31435800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr14:31417000-31435600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:31420000-31435400	Weak transcription	Fetal Thymus	thymus
18	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr14:31420800-31435400	Weak transcription	NHDF-Ad	bronchial
20	chr14:31423400-31435400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:31423400-31435400	Weak transcription	NHEK	skin
22	chr14:31423400-31435600	Weak transcription	Hela-S3	cervix
23	chr14:31424400-31435600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:31424400-31435800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:31425200-31435600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:31425400-31435600	Weak transcription	Osteobl	bone
27	chr14:31425600-31435400	Weak transcription	HSMM	muscle
28	chr14:31425600-31435400	Weak transcription	NH-A	brain
29	chr14:31425600-31435600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr14:31425600-31437000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:31425600-31442800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:31425600-31443000	Weak transcription	HUVEC	blood vessel
33	chr14:31429200-31435600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr14:31429400-31435600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr14:31429800-31435600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:31432000-31435400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:31432000-31435400	Weak transcription	Brain Angular Gyrus	brain
38	chr14:31433000-31437200	ZNF genes & repeats	Fetal Stomach	stomach
39	chr14:31433200-31436400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr14:31433200-31436600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:31433200-31436800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
42	chr14:31433200-31436800	ZNF genes & repeats	Fetal Intestine Large	intestine
43	chr14:31433200-31437200	ZNF genes & repeats	Fetal Muscle Leg	muscle
44	chr14:31433200-31437400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:31433200-31437400	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr14:31433400-31435800	Weak transcription	K562	blood
47	chr14:31433400-31436200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
48	chr14:31433600-31436200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:31433600-31436200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:31433600-31436200	ZNF genes & repeats	Fetal Brain Female	brain

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