Variant report

Variant	rs587650220
Chromosome Location	chr14:105782286-105782287
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	EBF1	chr14:105782122-105782377	GM12878	blood:	n/a	chr14:105782253-105782263 chr14:105782253-105782262 chr14:105782253-105782262
2	MAX	chr14:105782166-105782305	HepG2	liver:	n/a	n/a
3	MAX	chr14:105780039-105782520	MCF-7	breast:	n/a	chr14:105782322-105782331 chr14:105780526-105780536 chr14:105782322-105782331 chr14:105782322-105782331
4	EBF1	chr14:105782129-105782346	GM12878	blood:	n/a	chr14:105782253-105782263 chr14:105782253-105782262 chr14:105782253-105782262
5	HDAC2	chr14:105781658-105782309	MCF-7	breast:	n/a	n/a
6	POLR2A	chr14:105781668-105782290	HCT-116	colon:	n/a	n/a
7	MYC	chr14:105782282-105782370	H1-hESC	embryonic stem cell:	n/a	chr14:105782322-105782331 chr14:105782322-105782331 chr14:105782322-105782331
8	MXI1	chr14:105780512-105782486	IMR90	lung:	n/a	chr14:105780693-105780708 chr14:105782321-105782330

No.	Distal block	Cell Line	Cell type
1	chr14:105647226..105648734-chr14:105780236..105782314,2	MCF-7	breast:
2	chr14:105765307..105769571-chr14:105774220..105784135,13	K562	blood:
3	chr14:105765282..105769482-chr14:105778355..105784135,18	K562	blood:

Variant related genes	Relation type
BRF1	TF binding region
ENSG00000257622	Chromatin interaction
ENSG00000185024	Chromatin interaction
ENSG00000183828	Chromatin interaction
ENSG00000179364	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 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	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
15	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
16	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
17	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
18	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
19	esv1795042	chr14:105779305-105784680	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
20	esv1802313	chr14:105779305-105784680	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
21	esv1804257	chr14:105779305-105784680	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
22	esv1821473	chr14:105779305-105784680	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
23	esv1827230	chr14:105779305-105784680	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
24	esv1838589	chr14:105779305-105784680	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
25	esv1839784	chr14:105779305-105784680	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
26	esv1847835	chr14:105779305-105784680	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
27	nsv566193	chr14:105779305-105784680	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
28	esv3324013	chr14:105780057-105782355	Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
29	nsv566197	chr14:105780507-105784680	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105779800-105782400	Active TSS	Fetal Kidney	kidney
2	chr14:105780000-105782800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:105780200-105782400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr14:105780200-105782400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr14:105780400-105782600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:105780400-105783400	Active TSS	HSMMtube	muscle
7	chr14:105781400-105782800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr14:105781600-105782400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr14:105781600-105782400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr14:105781600-105782400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:105781600-105782400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr14:105781600-105782400	Flanking Active TSS	Placenta	Placenta
13	chr14:105781600-105782400	Flanking Active TSS	HUVEC	blood vessel
14	chr14:105781600-105782600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr14:105781600-105782600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:105781600-105782600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr14:105781600-105782600	Flanking Bivalent TSS/Enh	Thymus	Thymus
18	chr14:105781600-105782800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:105781600-105782800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:105781600-105782800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:105781600-105782800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:105781600-105782800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr14:105781600-105782800	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr14:105781600-105782800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr14:105781600-105782800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr14:105781600-105782800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr14:105781600-105783000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:105781600-105783000	Flanking Active TSS	Dnd41	blood
29	chr14:105781600-105784200	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr14:105781800-105782400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
31	chr14:105781800-105782400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:105781800-105782400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:105781800-105782400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr14:105781800-105782400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:105781800-105782400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr14:105781800-105782400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr14:105781800-105782400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr14:105781800-105782400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:105781800-105782400	Flanking Active TSS	Liver	Liver
40	chr14:105781800-105782400	Flanking Active TSS	Fetal Lung	lung
41	chr14:105781800-105782400	Flanking Active TSS	Fetal Thymus	thymus
42	chr14:105781800-105782400	Flanking Active TSS	Spleen	Spleen
43	chr14:105781800-105782400	Flanking Active TSS	A549	lung
44	chr14:105781800-105782400	Flanking Active TSS	HSMM	muscle
45	chr14:105781800-105782400	Flanking Active TSS	K562	blood
46	chr14:105781800-105782600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:105781800-105782600	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr14:105781800-105782600	Flanking Active TSS	GM12878-XiMat	blood
49	chr14:105781800-105782800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:105781800-105782800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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