Variant report

Variant	rs587688442
Chromosome Location	chr14:105768353-105768354
allele	A/G
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	POLR2A	chr14:105766625-105768562	K562	blood:	n/a	n/a
2	NR2F2	chr14:105767403-105768419	K562	blood:	n/a	n/a
3	MAX	chr14:105766191-105768391	A549	lung:	n/a	chr14:105767652-105767662 chr14:105767916-105767926 chr14:105767844-105767854 chr14:105767708-105767718 chr14:105766553-105766562 chr14:105767751-105767761 chr14:105767785-105767795
4	ZNF384	chr14:105767876-105768632	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105766350..105771356-chr14:105955110..105959126,6	MCF-7	breast:
2	chr14:105765282..105769482-chr14:105778355..105784135,18	K562	blood:
3	chr14:105767766..105768456-chr14:105800435..105801361,2	MCF-7	breast:
4	chr14:105265110..105267765-chr14:105766806..105769681,2	K562	blood:
5	chr14:105765307..105769571-chr14:105774220..105784135,13	K562	blood:
6	chr14:105713379..105716522-chr14:105764463..105769159,4	MCF-7	breast:

Variant related genes	Relation type
BRF1	TF binding region
ENSG00000185347	Chromatin interaction
ENSG00000184887	Chromatin interaction
ENSG00000179364	Chromatin interaction
ENSG00000185024	Chromatin interaction
ENSG00000179627	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 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
23	esv3380677	chr14:105766332-105769080	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105765600-105768400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:105765800-105768400	Active TSS	A549	lung
3	chr14:105766000-105768400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:105766200-105768400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr14:105766200-105768400	Active TSS	Lung	lung
6	chr14:105766400-105768400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:105766400-105768400	Active TSS	Brain Hippocampus Middle	brain
8	chr14:105766400-105768600	Active TSS	K562	blood
9	chr14:105766600-105768400	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr14:105766600-105768400	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr14:105766600-105768400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr14:105766600-105768400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:105766600-105768400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:105766600-105768400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:105766600-105768400	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr14:105766600-105768400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:105766600-105768400	Active TSS	Duodenum Mucosa	Duodenum
18	chr14:105766600-105768400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr14:105766600-105768400	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr14:105766600-105768400	Active TSS	Rectal Smooth Muscle	rectum
21	chr14:105766600-105768600	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr14:105766600-105768600	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr14:105766800-105768400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr14:105766800-105768400	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr14:105766800-105768400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:105767600-105768400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr14:105767800-105768400	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr14:105767800-105768400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr14:105767800-105768400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:105767800-105768400	Flanking Active TSS	Dnd41	blood
31	chr14:105768000-105768400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
32	chr14:105768000-105768400	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr14:105768000-105768400	Flanking Active TSS	Placenta	Placenta
34	chr14:105768000-105768400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr14:105768200-105768400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:105768200-105768400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:105768200-105768400	Enhancers	Primary B cells from peripheral blood	blood
38	chr14:105768200-105768400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:105768200-105768400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr14:105768200-105768400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:105768200-105768400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:105768200-105768400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:105768200-105768400	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr14:105768200-105768400	Enhancers	Fetal Intestine Small	intestine
45	chr14:105768200-105768400	Enhancers	Fetal Muscle Leg	muscle
46	chr14:105768200-105768400	Enhancers	Pancreas	Pancrea
47	chr14:105768200-105768400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr14:105768200-105768400	Enhancers	Spleen	Spleen
49	chr14:105768200-105768400	Flanking Active TSS	HepG2	liver
50	chr14:105768200-105768600	Enhancers	Primary B cells from cord blood	blood

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