Variant report

Variant	rs543562591
Chromosome Location	chr14:68603219-68603220
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68541688..68545482-chr14:68601842..68606347,5	MCF-7	breast:
2	chr14:68602556..68605498-chr14:68644856..68647677,2	MCF-7	breast:
3	chr14:68601379..68608308-chr14:69256404..69263440,24	MCF-7	breast:
4	chr14:68602359..68604172-chr14:68607453..68609034,2	K562	blood:
5	chr14:68588139..68594823-chr14:68601028..68606199,6	MCF-7	breast:
6	chr14:68600338..68604507-chr14:69260783..69264203,4	MCF-7	breast:
7	chr14:68569854..68573880-chr14:68602556..68607160,7	MCF-7	breast:
8	chr14:68602495..68610533-chr14:68655867..68660749,19	MCF-7	breast:
9	chr14:68569098..68575378-chr14:68600721..68608879,10	MCF-7	breast:
10	chr14:68602094..68605658-chr14:68697621..68700210,3	MCF-7	breast:
11	chr14:68601506..68610081-chr14:68654290..68661321,21	MCF-7	breast:
12	chr14:68532345..68534667-chr14:68601779..68604351,2	MCF-7	breast:
13	chr14:68603181..68605739-chr14:68855222..68857366,2	MCF-7	breast:
14	chr14:68430411..68433270-chr14:68602747..68607900,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv3523718	chr14:68601299-68605697	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3421508	chr14:68601799-68604997	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3523696	chr14:68602224-68605072	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2489967	chr14:68602325-68604366	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3323995	chr14:68602399-68604747	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3523663	chr14:68602570-68604062	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv9245	chr14:68602803-68603881	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv512364	chr14:68602807-68603941	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3523685	chr14:68602849-68604247	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv2315033	chr14:68602870-68603913	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3326248	chr14:68602928-68603829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3393250	chr14:68602929-68603909	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3499081	chr14:68602933-68603898	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3523674	chr14:68602936-68603851	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3523707	chr14:68602945-68603833	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3426232	chr14:68602974-68603782	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3499082	chr14:68602979-68603797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3499083	chr14:68602979-68603797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv3523641	chr14:68602981-68603798	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv3430837	chr14:68602994-68603752	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv3523652	chr14:68603018-68603736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv1003046	chr14:68603032-68603731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv85056	chr14:68603032-68603731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv3523730	chr14:68603032-68603759	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	esv1205109	chr14:68603058-68603758	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68592400-68604600	Weak transcription	Psoas Muscle	Psoas
2	chr14:68592400-68606200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:68593400-68603400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:68594200-68604400	Weak transcription	Fetal Stomach	stomach
5	chr14:68596200-68604800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:68598800-68603800	Weak transcription	Adipose Nuclei	Adipose
7	chr14:68599600-68603600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:68599600-68603800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:68599800-68604400	Weak transcription	Ovary	ovary
10	chr14:68600000-68604200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:68600000-68606200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:68601200-68606400	Weak transcription	Brain Hippocampus Middle	brain
13	chr14:68601400-68604400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr14:68601800-68604200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr14:68601800-68607200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:68601800-68608800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:68601800-68613600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr14:68601800-68614400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:68601800-68614800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:68601800-68615600	Enhancers	HMEC	breast
21	chr14:68602000-68607400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:68602200-68606600	Enhancers	NHEK	skin
23	chr14:68602400-68603800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:68602400-68603800	Weak transcription	GM12878-XiMat	blood
25	chr14:68602400-68604000	Weak transcription	Fetal Kidney	kidney
26	chr14:68602400-68604200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr14:68602400-68604200	Weak transcription	Stomach Mucosa	stomach
28	chr14:68602400-68609600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:68602400-68610200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:68602600-68603600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:68602600-68603800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:68602600-68603800	Weak transcription	Colon Smooth Muscle	Colon
33	chr14:68602600-68603800	Weak transcription	Fetal Intestine Small	intestine
34	chr14:68602600-68603800	Weak transcription	Hela-S3	cervix
35	chr14:68602600-68603800	Weak transcription	Osteobl	bone
36	chr14:68602600-68604200	Weak transcription	NHLF	lung
37	chr14:68602800-68603800	Weak transcription	HSMM	muscle
38	chr14:68602800-68603800	Weak transcription	NHDF-Ad	bronchial
39	chr14:68602800-68604000	Weak transcription	NH-A	brain
40	chr14:68603000-68604000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr14:68603000-68605000	Enhancers	Fetal Muscle Leg	muscle
42	chr14:68603200-68603600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:68603200-68603600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:68603200-68603600	Weak transcription	A549	lung
45	chr14:68603200-68603600	Weak transcription	HSMMtube	muscle
46	chr14:68603200-68603800	Weak transcription	Aorta	Aorta

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