Variant report

Variant	rs371159407
Chromosome Location	chr14:105766147-105766148
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	ZNF143	chr14:105765979-105766227	Hela-S3	cervix:	n/a	n/a
2	HCFC1	chr14:105765946-105768196	Hela-S3	cervix:	n/a	n/a
3	RCOR1	chr14:105765926-105766255	K562	blood:	n/a	n/a
4	TRIM28	chr14:105765874-105766344	K562	blood:	n/a	n/a
5	SETDB1	chr14:105765911-105766281	U2OS	brain:	n/a	n/a
6	MTA3	chr14:105765789-105767734	GM12878	blood:	n/a	n/a
7	CBX3	chr14:105765920-105766209	K562	blood:	n/a	n/a
8	MXI1	chr14:105766108-105768085	GM12878	blood:	n/a	n/a
9	ZNF143	chr14:105766043-105766150	GM12878	blood:	n/a	n/a
10	RFX5	chr14:105766044-105766573	Hela-S3	cervix:	n/a	n/a
11	EBF1	chr14:105765929-105766487	GM12878	blood:	n/a	chr14:105766192-105766203
12	CBX3	chr14:105765911-105766270	K562	blood:	n/a	n/a
13	RUNX3	chr14:105765930-105768251	GM12878	blood:	n/a	chr14:105766729-105766746
14	RUNX3	chr14:105765971-105766525	GM12878	blood:	n/a	n/a
15	MAX	chr14:105765877-105768272	MCF-7	breast:	n/a	chr14:105767652-105767662 chr14:105767916-105767926 chr14:105767844-105767854 chr14:105767708-105767718 chr14:105766553-105766562 chr14:105767751-105767761 chr14:105767785-105767795
16	ZNF143	chr14:105765932-105766247	K562	blood:	n/a	n/a
17	KAP1	chr14:105765873-105767650	HEK293	kidney:	n/a	n/a
18	MAZ	chr14:105766139-105768291	IMR90	lung:	n/a	chr14:105767652-105767662 chr14:105767916-105767926 chr14:105767844-105767854 chr14:105767708-105767718 chr14:105766553-105766562 chr14:105767751-105767761 chr14:105767785-105767795
19	TCF12	chr14:105766007-105766361	GM12878	blood:	n/a	n/a
20	KAP1	chr14:105765966-105766301	K562	blood:	n/a	n/a
21	EBF1	chr14:105765964-105766291	GM12878	blood:	n/a	chr14:105766192-105766203
22	HDAC2	chr14:105765834-105768245	MCF-7	breast:	n/a	n/a
23	REST	chr14:105766074-105768203	H1-neurons	neurons:	n/a	chr14:105767705-105767718 chr14:105766536-105766549 chr14:105767649-105767662 chr14:105767775-105767788 chr14:105768070-105768083 chr14:105767916-105767929
24	USF2	chr14:105766038-105766285	Hela-S3	cervix:	n/a	n/a
25	EBF1	chr14:105765978-105766434	GM12878	blood:	n/a	chr14:105766192-105766203
26	WRNIP1	chr14:105765976-105766462	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105765282..105769482-chr14:105778355..105784135,18	K562	blood:
2	chr14:105765307..105769571-chr14:105774220..105784135,13	K562	blood:
3	chr14:105443928..105445902-chr14:105765680..105767557,2	MCF-7	breast:
4	chr14:105760458..105762689-chr14:105764878..105766519,2	K562	blood:
5	chr14:105765913..105767563-chr14:105954548..105956473,2	MCF-7	breast:
6	chr14:105713379..105716522-chr14:105764463..105769159,4	MCF-7	breast:

Variant related genes	Relation type
PACS2	TF binding region
ENSG00000257341	Chromatin interaction
ENSG00000184887	Chromatin interaction
ENSG00000185024	Chromatin interaction
ENSG00000185567	Chromatin interaction
ENSG00000185347	Chromatin interaction
ENSG00000179364	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS 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 miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
4	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS 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 miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
8	esv2758369	chr14:105513346-105803170	Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	esv2760014	chr14:105513346-105803170	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv902441	chr14:105602619-105803170	Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv902442	chr14:105602619-105803170	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	esv1817919	chr14:105605199-105803170	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
14	nsv566186	chr14:105675701-105779305	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv902466	chr14:105704465-105803170	Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	esv29986	chr14:105707292-105803170	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv832887	chr14:105717339-105803170	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
18	nsv832888	chr14:105717339-105803170	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
19	nsv1049929	chr14:105718240-105772037	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
20	nsv1052355	chr14:105718240-105789157	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
21	nsv566187	chr14:105756485-105780704	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
22	esv3420807	chr14:105764707-105769605	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105749600-105766200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:105753400-105766200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:105760800-105766200	Weak transcription	Esophagus	oesophagus
4	chr14:105761000-105766200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:105761600-105766200	Weak transcription	Lung	lung
6	chr14:105764600-105766200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr14:105765400-105766200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr14:105765400-105766200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:105765400-105766200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr14:105765600-105766200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:105765600-105766200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:105765600-105766200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr14:105765600-105766200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:105765600-105766200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr14:105765600-105766200	Enhancers	Spleen	Spleen
16	chr14:105765600-105766400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:105765600-105766400	Flanking Active TSS	Hela-S3	cervix
18	chr14:105765600-105766600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:105765600-105766600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:105765600-105766600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:105765600-105766600	Flanking Active TSS	Fetal Brain Female	brain
22	chr14:105765600-105766600	Flanking Active TSS	Dnd41	blood
23	chr14:105765600-105766600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr14:105765600-105767000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:105765600-105767000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:105765600-105767000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:105765600-105768400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:105765800-105766200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:105765800-105766200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:105765800-105766200	Enhancers	Primary B cells from peripheral blood	blood
31	chr14:105765800-105766200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:105765800-105766200	Enhancers	Fetal Heart	heart
33	chr14:105765800-105766200	Enhancers	Fetal Thymus	thymus
34	chr14:105765800-105766200	Enhancers	Left Ventricle	heart
35	chr14:105765800-105766200	Enhancers	Pancreas	Pancrea
36	chr14:105765800-105766200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr14:105765800-105766200	Enhancers	Stomach Mucosa	stomach
38	chr14:105765800-105766200	Flanking Active TSS	HepG2	liver
39	chr14:105765800-105766200	Flanking Active TSS	NHLF	lung
40	chr14:105765800-105766400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:105765800-105766400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr14:105765800-105766400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:105765800-105766400	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr14:105765800-105766400	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr14:105765800-105766400	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr14:105765800-105766400	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr14:105765800-105766400	Flanking Active TSS	Fetal Lung	lung
48	chr14:105765800-105766400	Flanking Active TSS	K562	blood
49	chr14:105765800-105766400	Flanking Active TSS	NHEK	skin
50	chr14:105765800-105766600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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