Variant report

Variant	rs10148966
Chromosome Location	chr14:55261196-55261197
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:54953298..54955664-chr14:55259319..55262021,2	MCF-7	breast:
2	chr14:55255469..55258062-chr14:55260338..55262456,2	K562	blood:

Variant related genes	Relation type
ENSG00000197045	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10135910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10141060	0.81[ASW][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap]
rs10147626	1.00[ASW][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12323472	1.00[ASW][hapmap];1.00[LWK][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes]
rs17127964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8014092	0.90[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9806024	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55237600-55261200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:55240800-55261600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:55240800-55261600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:55241000-55263200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:55241200-55272200	Weak transcription	A549	lung
6	chr14:55243600-55261400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:55254600-55261400	Weak transcription	NH-A	brain
8	chr14:55257000-55261400	Weak transcription	Ovary	ovary
9	chr14:55257200-55261600	Weak transcription	Spleen	Spleen
10	chr14:55257200-55272400	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:55257400-55261200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:55257400-55261200	Weak transcription	NHEK	skin
13	chr14:55257400-55261400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:55257400-55261400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:55257400-55261600	Weak transcription	Pancreas	Pancrea
16	chr14:55257400-55263800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:55257600-55261400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:55257600-55261600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:55257600-55261800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:55257800-55262400	Weak transcription	Osteobl	bone
21	chr14:55257800-55263200	Weak transcription	HSMMtube	muscle
22	chr14:55257800-55272400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr14:55258000-55261200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:55258000-55261200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr14:55258000-55261600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr14:55258000-55262200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:55258000-55262400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:55258000-55262400	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:55258000-55262400	Weak transcription	HepG2	liver
30	chr14:55258000-55262800	Weak transcription	HMEC	breast
31	chr14:55258000-55262800	Weak transcription	HUVEC	blood vessel
32	chr14:55258000-55263200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr14:55258000-55265000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:55258000-55268000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr14:55258000-55272200	Weak transcription	Right Ventricle	heart
36	chr14:55258200-55261600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:55258200-55261600	Weak transcription	HSMM	muscle
38	chr14:55258200-55262200	Weak transcription	Fetal Intestine Large	intestine
39	chr14:55258200-55263400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:55258600-55262000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:55258800-55261400	Weak transcription	Fetal Intestine Small	intestine
42	chr14:55259000-55261200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr14:55259000-55261400	Weak transcription	Adipose Nuclei	Adipose
44	chr14:55259400-55261400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:55259400-55261400	Weak transcription	Fetal Muscle Leg	muscle
46	chr14:55259400-55261400	Weak transcription	NHLF	lung
47	chr14:55259400-55261600	Weak transcription	Aorta	Aorta
48	chr14:55259400-55261600	Weak transcription	Left Ventricle	heart
49	chr14:55259400-55261800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr14:55259400-55263200	Weak transcription	NHDF-Ad	bronchial

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