Variant report

Variant	rs11850654
Chromosome Location	chr14:68623012-68623013
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68618000..68619846-chr14:68621881..68624547,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11846084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11847621	1.00[AMR][1000 genomes]
rs11850079	0.83[YRI][hapmap]
rs17104798	1.00[AMR][1000 genomes]
rs17104840	1.00[AMR][1000 genomes]
rs17105070	1.00[AMR][1000 genomes]
rs17105073	0.83[YRI][hapmap]
rs17105081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105083	0.83[YRI][hapmap]
rs17105085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105088	0.83[YRI][hapmap]
rs17105099	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105102	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2094326	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34116400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34227845	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1048794	chr14:68614152-68649231	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68607200-68623600	Weak transcription	Ovary	ovary
2	chr14:68612600-68628000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr14:68613000-68631200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr14:68614400-68624600	Weak transcription	Osteobl	bone
5	chr14:68615600-68624200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:68620800-68627000	Weak transcription	Psoas Muscle	Psoas
7	chr14:68621200-68630000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:68621400-68628200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:68621400-68631000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:68622200-68623200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:68622200-68624000	Enhancers	Fetal Lung	lung
12	chr14:68622400-68623200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:68622400-68623200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:68622400-68624000	Enhancers	K562	blood
15	chr14:68622400-68625600	Enhancers	Liver	Liver
16	chr14:68622400-68625600	Enhancers	Rectal Smooth Muscle	rectum
17	chr14:68622400-68625800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr14:68622600-68624000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:68622600-68625000	Weak transcription	Fetal Kidney	kidney
20	chr14:68622800-68623200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr14:68622800-68623200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:68622800-68624600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr14:68622800-68625600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:68622800-68625600	Weak transcription	Fetal Stomach	stomach
25	chr14:68623000-68623200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:68623000-68623200	Enhancers	HepG2	liver
27	chr14:68623000-68623600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:68623000-68624600	Weak transcription	Fetal Muscle Leg	muscle
29	chr14:68623000-68625400	Enhancers	Colon Smooth Muscle	Colon
30	chr14:68623000-68625600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr14:68623000-68627400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:68623000-68630600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr14:68623000-68631000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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