Variant report

Variant	rs528054941
Chromosome Location	chr14:70040820-70040821
allele	C/T
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	E2F6	chr14:70037838-70041874	H1-hESC	embryonic stem cell:	n/a	chr14:70039917-70039926 chr14:70040055-70040065 chr14:70039052-70039062 chr14:70039095-70039104 chr14:70039088-70039098 chr14:70039907-70039917 chr14:70038869-70038880 chr14:70041273-70041288 chr14:70041340-70041349 chr14:70039085-70039095
2	REST	chr14:70040120-70042029	H1-neurons	neurons:	n/a	chr14:70041308-70041317 chr14:70040123-70040141 chr14:70040122-70040142 chr14:70040518-70040531 chr14:70040126-70040139 chr14:70040129-70040142 chr14:70040122-70040142
3	TCF12	chr14:70040533-70040851	H1-hESC	embryonic stem cell:	n/a	n/a
4	TEAD4	chr14:70040352-70040891	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:70040554-70040945	H1-hESC	embryonic stem cell:	n/a	n/a
6	GABPA	chr14:70040363-70040890	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr14:70040474-70041009	H1-neurons	neurons:	n/a	n/a
8	TEAD4	chr14:70040461-70040858	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr14:70040391-70041771	H1-neurons	neurons:	n/a	n/a
10	TCF7L2	chr14:70040492-70040910	HEK293	kidney:	n/a	n/a
11	ZNF263	chr14:70040244-70040961	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:70036912..70038706-chr14:70040330..70041890,2	MCF-7	breast:
2	chr14:69949714..69952374-chr14:70039182..70041131,3	MCF-7	breast:
3	chr14:70037278..70041103-chr14:70232570..70234461,4	MCF-7	breast:
4	chr14:70001699..70002644-chr14:70040741..70042019,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267909	TF binding region
CCDC177	TF binding region
ENSG00000100650	Chromatin interaction
ENSG00000175985	Chromatin interaction
ENSG00000255994	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv565003	chr14:70035500-70041193	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
2	nsv565004	chr14:70035500-70041363	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	nsv1335	chr14:70036126-70062584	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1824330	chr14:70037611-70042464	Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
7	esv20393	chr14:70038588-70041438	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
8	esv3339004	chr14:70038624-70041372	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
9	nsv565005	chr14:70039587-70040957	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
10	esv1835569	chr14:70039587-70041363	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70039000-70041400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
2	chr14:70039200-70041000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr14:70039200-70041200	Bivalent Enhancer	Fetal Stomach	stomach
4	chr14:70039400-70041000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr14:70039400-70041000	Bivalent Enhancer	Esophagus	oesophagus
6	chr14:70039400-70041200	Bivalent Enhancer	Primary B cells from cord blood	blood
7	chr14:70039400-70041200	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr14:70039400-70041600	Enhancers	Gastric	stomach
9	chr14:70039400-70041600	Bivalent Enhancer	HUVEC	blood vessel
10	chr14:70039400-70045000	Weak transcription	Hela-S3	cervix
11	chr14:70039600-70041000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:70039600-70041000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
13	chr14:70039600-70041000	Bivalent Enhancer	Colonic Mucosa	Colon
14	chr14:70039600-70041600	Enhancers	Pancreas	Pancrea
15	chr14:70039800-70041000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:70040000-70041000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:70040000-70041000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
18	chr14:70040000-70041200	Active TSS	Right Atrium	heart
19	chr14:70040000-70041800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:70040200-70041000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
21	chr14:70040200-70041200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr14:70040200-70041200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:70040200-70041200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:70040200-70041200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
25	chr14:70040200-70041600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr14:70040200-70041600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
27	chr14:70040200-70041600	Bivalent Enhancer	Fetal Intestine Small	intestine
28	chr14:70040400-70041000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:70040400-70041000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:70040400-70041000	Bivalent/Poised TSS	A549	lung
31	chr14:70040400-70041000	Bivalent Enhancer	NHEK	skin
32	chr14:70040400-70041200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:70040400-70041200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:70040400-70041200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:70040400-70041400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr14:70040400-70041600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:70040400-70041600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:70040400-70041600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr14:70040400-70041600	Bivalent Enhancer	Liver	Liver
40	chr14:70040400-70041600	Active TSS	Brain Anterior Caudate	brain
41	chr14:70040400-70041600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
42	chr14:70040400-70041600	Bivalent Enhancer	Fetal Lung	lung
43	chr14:70040400-70041600	Bivalent Enhancer	Placenta	Placenta
44	chr14:70040400-70041600	Bivalent Enhancer	Lung	lung
45	chr14:70040400-70042000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr14:70040600-70041000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
47	chr14:70040600-70041000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
48	chr14:70040600-70041000	Bivalent Enhancer	Brain Substantia Nigra	brain
49	chr14:70040600-70041000	Active TSS	Fetal Brain Female	brain
50	chr14:70040600-70041000	Bivalent Enhancer	Thymus	Thymus

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