Variant report

Variant	rs72727425
Chromosome Location	chr14:68739968-68739969
allele	C/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68735582..68739997-chr14:69256653..69260032,4	MCF-7	breast:
2	chr14:68734020..68736291-chr14:68738963..68740608,3	MCF-7	breast:
3	chr14:68739540..68742303-chr14:68747560..68750666,4	MCF-7	breast:
4	chr14:68723841..68726668-chr14:68738353..68741257,2	MCF-7	breast:
5	chr14:68739624..68742701-chr14:69255913..69259570,3	MCF-7	breast:
6	chr14:68736827..68740855-chr14:68741614..68744928,4	MCF-7	breast:
7	chr14:68406857..68408477-chr14:68739231..68740855,2	MCF-7	breast:
8	chr14:68637800..68639810-chr14:68738293..68741236,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12889206	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1570106	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1810623	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902564	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4902567	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150454	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160221	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8003738	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68729200-68749400	Weak transcription	Lung	lung
2	chr14:68730000-68745000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:68731600-68746000	Enhancers	Primary B cells from peripheral blood	blood
4	chr14:68731800-68749000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:68732000-68741800	Enhancers	Primary B cells from cord blood	blood
6	chr14:68732600-68743600	Enhancers	Primary T cells from cord blood	blood
7	chr14:68732800-68740400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr14:68734200-68742600	Enhancers	Fetal Lung	lung
9	chr14:68735200-68742200	Weak transcription	Thymus	Thymus
10	chr14:68735600-68742200	Weak transcription	Dnd41	blood
11	chr14:68736200-68740000	Weak transcription	Pancreas	Pancrea
12	chr14:68736200-68741200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr14:68736200-68741800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:68736200-68745000	Weak transcription	Liver	Liver
15	chr14:68736400-68742400	Weak transcription	Small Intestine	intestine
16	chr14:68736400-68745400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:68736600-68745200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:68736600-68745200	Weak transcription	HSMMtube	muscle
19	chr14:68736600-68745400	Weak transcription	Spleen	Spleen
20	chr14:68736800-68740400	Weak transcription	Right Atrium	heart
21	chr14:68737000-68745200	Weak transcription	Brain Hippocampus Middle	brain
22	chr14:68737400-68740000	Weak transcription	Fetal Thymus	thymus
23	chr14:68737400-68740000	Weak transcription	Ovary	ovary
24	chr14:68737400-68740400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr14:68737400-68744800	Weak transcription	HepG2	liver
26	chr14:68737400-68745200	Weak transcription	Psoas Muscle	Psoas
27	chr14:68737400-68745400	Weak transcription	Brain Anterior Caudate	brain
28	chr14:68737600-68740000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:68737600-68740000	Weak transcription	Stomach Mucosa	stomach
30	chr14:68738000-68740200	Weak transcription	A549	lung
31	chr14:68738000-68745000	Weak transcription	Fetal Kidney	kidney
32	chr14:68738200-68740000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr14:68738200-68740200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr14:68738200-68740400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr14:68738400-68740400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:68738400-68741200	Weak transcription	Fetal Brain Male	brain
37	chr14:68738600-68740200	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr14:68738600-68742600	Weak transcription	Fetal Intestine Small	intestine
39	chr14:68738800-68740000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr14:68738800-68740200	Enhancers	Primary T cells fromperipheralblood	blood
41	chr14:68739000-68741600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:68739000-68750000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr14:68739200-68740200	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr14:68739200-68741000	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr14:68739200-68741200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:68739200-68741200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:68739200-68741400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr14:68739200-68741400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr14:68739200-68741400	Enhancers	GM12878-XiMat	blood
50	chr14:68739200-68742600	Weak transcription	Colon Smooth Muscle	Colon

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