Variant report

Variant	rs141260195
Chromosome Location	chr14:105782465-105782466
allele	G/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	MAFK	chr14:105782407-105782649	IMR90	lung:	n/a	chr14:105782584-105782595 chr14:105782489-105782504
2	MAX	chr14:105780039-105782520	MCF-7	breast:	n/a	chr14:105782322-105782331 chr14:105780526-105780536 chr14:105782322-105782331 chr14:105782322-105782331
3	MAFK	chr14:105782376-105782637	HepG2	liver:	n/a	chr14:105782584-105782595 chr14:105782489-105782504
4	MAFK	chr14:105782334-105782684	HepG2	liver:	n/a	chr14:105782584-105782595 chr14:105782489-105782504
5	MAFF	chr14:105782387-105782640	HepG2	liver:	n/a	chr14:105782487-105782505
6	MXI1	chr14:105780512-105782486	IMR90	lung:	n/a	chr14:105780693-105780708 chr14:105782321-105782330

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105765307..105769571-chr14:105774220..105784135,13	K562	blood:
2	chr14:105765282..105769482-chr14:105778355..105784135,18	K562	blood:

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

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 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	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105780000-105782800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:105780400-105782600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:105780400-105783400	Active TSS	HSMMtube	muscle
4	chr14:105781400-105782800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr14:105781600-105782600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr14:105781600-105782600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:105781600-105782600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr14:105781600-105782600	Flanking Bivalent TSS/Enh	Thymus	Thymus
9	chr14:105781600-105782800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:105781600-105782800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:105781600-105782800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:105781600-105782800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:105781600-105782800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr14:105781600-105782800	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr14:105781600-105782800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr14:105781600-105782800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr14:105781600-105782800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr14:105781600-105783000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:105781600-105783000	Flanking Active TSS	Dnd41	blood
20	chr14:105781600-105784200	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr14:105781800-105782600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:105781800-105782600	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr14:105781800-105782600	Flanking Active TSS	GM12878-XiMat	blood
24	chr14:105781800-105782800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:105781800-105782800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:105781800-105782800	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr14:105781800-105782800	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr14:105781800-105782800	Flanking Active TSS	Osteobl	bone
29	chr14:105781800-105783000	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr14:105781800-105783000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr14:105781800-105783400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:105781800-105783400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:105781800-105784000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:105781800-105784200	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr14:105781800-105784200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr14:105781800-105784400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:105782000-105782600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
38	chr14:105782000-105782600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:105782000-105782600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr14:105782000-105782600	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr14:105782000-105782600	Flanking Active TSS	Pancreas	Pancrea
42	chr14:105782000-105782800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:105782000-105782800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:105782000-105782800	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr14:105782000-105782800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr14:105782000-105782800	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr14:105782000-105782800	Flanking Active TSS	Hela-S3	cervix
48	chr14:105782000-105782800	Flanking Active TSS	NHEK	skin
49	chr14:105782000-105783000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:105782000-105783600	Flanking Active TSS	Colon Smooth Muscle	Colon

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