Variant report

Variant	rs10131490
Chromosome Location	chr14:68743307-68743308
allele	A/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	chr14:68740676..68743465-chr14:68744041..68745922,2	K562	blood:
2	chr14:68740932..68744536-chr14:69121884..69124192,3	MCF-7	breast:
3	chr14:68721166..68724002-chr14:68741604..68744207,2	MCF-7	breast:
4	chr14:68742486..68746272-chr14:68747119..68750722,4	MCF-7	breast:
5	chr14:68740011..68745148-chr14:69257189..69263006,8	MCF-7	breast:
6	chr14:68741150..68743310-chr14:69260106..69262299,3	MCF-7	breast:
7	chr14:68736827..68740855-chr14:68741614..68744928,4	MCF-7	breast:
8	chr14:68741974..68743530-chr14:68829514..68831281,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17105278	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1885013	0.91[EUR][1000 genomes]
rs1950897	0.91[EUR][1000 genomes]
rs1957569	0.81[EUR][1000 genomes]
rs1957570	0.98[EUR][1000 genomes]
rs2104047	0.91[EUR][1000 genomes]
rs2208397	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28498223	0.98[EUR][1000 genomes]
rs3784099	0.92[EUR][1000 genomes]
rs7148416	0.98[EUR][1000 genomes]
rs7148882	0.99[EUR][1000 genomes]
rs8008961	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015139	0.99[EUR][1000 genomes]
rs911263	0.92[EUR][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:55 , 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	chr14:68732600-68743600	Enhancers	Primary T cells from cord blood	blood
6	chr14:68736200-68745000	Weak transcription	Liver	Liver
7	chr14:68736400-68745400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:68736600-68745200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr14:68736600-68745200	Weak transcription	HSMMtube	muscle
10	chr14:68736600-68745400	Weak transcription	Spleen	Spleen
11	chr14:68737000-68745200	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:68737400-68744800	Weak transcription	HepG2	liver
13	chr14:68737400-68745200	Weak transcription	Psoas Muscle	Psoas
14	chr14:68737400-68745400	Weak transcription	Brain Anterior Caudate	brain
15	chr14:68738000-68745000	Weak transcription	Fetal Kidney	kidney
16	chr14:68739000-68750000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:68739200-68745200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:68739200-68748200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:68740000-68750200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:68740000-68751600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr14:68740200-68746600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr14:68740400-68744600	Weak transcription	Pancreas	Pancrea
23	chr14:68740400-68745800	Weak transcription	Ovary	ovary
24	chr14:68740800-68744000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:68741200-68743600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr14:68741400-68743800	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr14:68741800-68743600	Enhancers	Fetal Thymus	thymus
28	chr14:68742200-68743800	Enhancers	Primary B cells from cord blood	blood
29	chr14:68742200-68744800	Weak transcription	A549	lung
30	chr14:68742400-68745200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:68742400-68745800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:68742600-68745200	Weak transcription	Fetal Lung	lung
33	chr14:68742600-68746800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:68742600-68749000	Weak transcription	Thymus	Thymus
35	chr14:68742600-68749200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr14:68742600-68751800	Weak transcription	Stomach Mucosa	stomach
37	chr14:68742800-68745000	Weak transcription	K562	blood
38	chr14:68742800-68745200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:68742800-68745800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr14:68742800-68747000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr14:68742800-68747400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:68742800-68749000	Weak transcription	Small Intestine	intestine
43	chr14:68743000-68743400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr14:68743000-68743600	Enhancers	GM12878-XiMat	blood
45	chr14:68743000-68745400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:68743000-68745800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr14:68743000-68746600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:68743000-68747000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr14:68743000-68747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr14:68743000-68748200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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