Variant report

Variant	rs11848730
Chromosome Location	chr14:68403050-68403051
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68403008..68415592-chr14:69254956..69264690,41	MCF-7	breast:
2	chr14:68401051..68404375-chr14:68404453..68408643,4	K562	blood:
3	chr14:68401750..68403926-chr14:68660111..68662363,2	MCF-7	breast:
4	chr14:68401488..68403854-chr19:8386636..8389269,2	MCF-7	breast:
5	chr14:68401118..68403523-chr14:69259774..69263175,3	K562	blood:
6	chr14:68303849..68305592-chr14:68401335..68404322,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11845382	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11847621	0.91[YRI][hapmap]
rs11849285	1.00[AMR][1000 genomes]
rs17104815	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17104853	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs34669269	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34718860	0.84[AFR][1000 genomes]
rs35288178	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57545156	0.81[AFR][1000 genomes]
rs57580062	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59188074	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60067288	0.82[AFR][1000 genomes]
rs60381652	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61301729	0.82[AFR][1000 genomes]
rs7144079	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7151985	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7159527	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280495	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282427	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282439	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282441	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282444	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282452	0.95[AFR][1000 genomes]
rs73282459	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282474	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282477	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282486	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282492	0.84[AFR][1000 genomes]
rs73284231	0.82[AFR][1000 genomes]
rs73284243	0.82[AFR][1000 genomes]
rs73284244	0.82[AFR][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	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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68395400-68408000	Weak transcription	Ovary	ovary
2	chr14:68400200-68404200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:68400400-68407000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:68400800-68404400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:68400800-68405200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:68401000-68406200	Weak transcription	Fetal Muscle Leg	muscle
7	chr14:68401200-68405000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:68401200-68407000	Weak transcription	Stomach Mucosa	stomach
9	chr14:68401200-68407200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:68401200-68407200	Weak transcription	Brain Anterior Caudate	brain
11	chr14:68401200-68407200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:68401400-68403800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:68401400-68404200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:68401400-68404800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:68401400-68405600	Weak transcription	Liver	Liver
16	chr14:68401600-68403400	Weak transcription	NHEK	skin
17	chr14:68401600-68403600	Weak transcription	HUVEC	blood vessel
18	chr14:68401600-68403800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:68401600-68404200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:68401600-68404800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:68401600-68405400	Weak transcription	Placenta	Placenta
22	chr14:68401600-68406200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:68401600-68406400	Weak transcription	NHDF-Ad	bronchial
24	chr14:68401600-68407000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:68401600-68407000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr14:68401600-68407000	Weak transcription	HSMMtube	muscle
27	chr14:68401600-68407000	Weak transcription	NHLF	lung
28	chr14:68401600-68407200	Weak transcription	Fetal Brain Male	brain
29	chr14:68401600-68407200	Weak transcription	HSMM	muscle
30	chr14:68401600-68407600	Weak transcription	Brain Angular Gyrus	brain
31	chr14:68401600-68407600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr14:68401800-68403800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:68401800-68404200	Weak transcription	Fetal Stomach	stomach
34	chr14:68401800-68404400	Weak transcription	Colon Smooth Muscle	Colon
35	chr14:68401800-68406400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:68401800-68407000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:68401800-68407000	Weak transcription	Fetal Kidney	kidney
38	chr14:68401800-68407200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr14:68401800-68407400	Weak transcription	Brain Germinal Matrix	brain
40	chr14:68401800-68407800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:68402000-68403800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr14:68402200-68403600	Enhancers	Fetal Lung	lung
43	chr14:68402200-68404000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr14:68402200-68404600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:68402200-68407600	Weak transcription	Fetal Thymus	thymus
46	chr14:68402400-68404000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr14:68402400-68404200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr14:68402400-68404400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr14:68402800-68403200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:68402800-68403200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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