Variant report

Variant	rs587673219
Chromosome Location	chr14:105765679-105765680
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	EP300	chr14:105765655-105765698	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	chr14:105760458..105762689-chr14:105764878..105766519,2	K562	blood:
4	chr14:105713379..105716522-chr14:105764463..105769159,4	MCF-7	breast:

Variant related genes	Relation type
PACS2	TF binding region
ENSG00000179364	Chromatin interaction
ENSG00000185024	Chromatin interaction
ENSG00000184887	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105715800-105766000	Weak transcription	Fetal Kidney	kidney
2	chr14:105739800-105765800	Weak transcription	NHEK	skin
3	chr14:105742200-105765800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr14:105744600-105766000	Weak transcription	HSMMtube	muscle
5	chr14:105747000-105766000	Weak transcription	Aorta	Aorta
6	chr14:105748200-105765800	Weak transcription	HMEC	breast
7	chr14:105748600-105765800	Weak transcription	A549	lung
8	chr14:105749600-105766200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:105753400-105766200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:105759600-105766000	Weak transcription	Small Intestine	intestine
11	chr14:105759800-105765800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:105760000-105765800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:105760800-105765800	Weak transcription	Psoas Muscle	Psoas
14	chr14:105760800-105765800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr14:105760800-105766000	Weak transcription	HSMM	muscle
16	chr14:105760800-105766200	Weak transcription	Esophagus	oesophagus
17	chr14:105761000-105765800	Weak transcription	Fetal Brain Male	brain
18	chr14:105761000-105765800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:105761000-105765800	Weak transcription	NH-A	brain
20	chr14:105761000-105766000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:105761000-105766000	Weak transcription	Gastric	stomach
22	chr14:105761000-105766200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:105761200-105765800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:105761400-105765800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:105761400-105765800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr14:105761400-105765800	Weak transcription	Brain Angular Gyrus	brain
27	chr14:105761400-105765800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:105761400-105765800	Weak transcription	Fetal Lung	lung
29	chr14:105761600-105765800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:105761600-105765800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr14:105761600-105765800	Weak transcription	Brain Substantia Nigra	brain
32	chr14:105761600-105765800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr14:105761600-105765800	Weak transcription	Left Ventricle	heart
34	chr14:105761600-105765800	Weak transcription	Pancreas	Pancrea
35	chr14:105761600-105765800	Weak transcription	HUVEC	blood vessel
36	chr14:105761600-105766000	Weak transcription	Right Atrium	heart
37	chr14:105761600-105766200	Weak transcription	Lung	lung
38	chr14:105761800-105765800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr14:105761800-105765800	Weak transcription	Fetal Heart	heart
40	chr14:105762000-105765800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr14:105762000-105765800	Weak transcription	Right Ventricle	heart
42	chr14:105764200-105765800	Weak transcription	Fetal Intestine Small	intestine
43	chr14:105764400-105765800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr14:105764400-105766000	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr14:105764600-105765800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr14:105764600-105765800	Enhancers	Brain Germinal Matrix	brain
47	chr14:105764600-105766000	Enhancers	Primary hematopoietic stem cells	blood
48	chr14:105764600-105766000	Enhancers	Ovary	ovary
49	chr14:105764600-105766200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr14:105764800-105765800	Weak transcription	GM12878-XiMat	blood

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