Variant report

Variant	rs11623593
Chromosome Location	chr14:69063908-69063909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69063634..69066048-chr14:69070455..69072811,2	K562	blood:
2	chr14:69061649..69064436-chr14:69261029..69262556,2	MCF-7	breast:
3	chr14:69059475..69061008-chr14:69062632..69064559,2	K562	blood:
4	chr14:69053718..69056599-chr14:69063479..69065769,2	K562	blood:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10136315	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10136316	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11623751	0.83[JPT][hapmap]
rs17829311	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72729537	0.84[ASN][1000 genomes]
rs963917	0.95[JPT][hapmap];0.88[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	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69049800-69064000	Enhancers	Fetal Muscle Leg	muscle
2	chr14:69052800-69064800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr14:69053400-69064800	Weak transcription	Brain Substantia Nigra	brain
4	chr14:69057000-69065800	Weak transcription	Gastric	stomach
5	chr14:69057400-69064600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr14:69057600-69065200	Weak transcription	Lung	lung
7	chr14:69057600-69065800	Weak transcription	Left Ventricle	heart
8	chr14:69057800-69064800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr14:69058600-69065200	Weak transcription	Esophagus	oesophagus
10	chr14:69058800-69065000	Weak transcription	Ovary	ovary
11	chr14:69059600-69064800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr14:69060000-69065000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:69060200-69064400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr14:69060200-69068200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr14:69060800-69064800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:69060800-69065000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:69061200-69064800	Weak transcription	NHLF	lung
18	chr14:69061200-69065000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:69061200-69065000	Weak transcription	Osteobl	bone
20	chr14:69061200-69065200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:69061200-69065600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:69061200-69078000	Weak transcription	Fetal Heart	heart
23	chr14:69061400-69064600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:69061400-69064800	Weak transcription	Colon Smooth Muscle	Colon
25	chr14:69061400-69064800	Weak transcription	Fetal Lung	lung
26	chr14:69061400-69064800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:69061400-69065000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:69061400-69065600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:69061600-69064600	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr14:69061600-69065000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:69061600-69065800	Weak transcription	Spleen	Spleen
32	chr14:69061800-69064400	Weak transcription	Primary B cells from cord blood	blood
33	chr14:69061800-69064400	Weak transcription	Fetal Intestine Small	intestine
34	chr14:69061800-69064800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:69061800-69065000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr14:69061800-69065000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:69061800-69065200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:69061800-69065200	Weak transcription	Fetal Thymus	thymus
39	chr14:69061800-69065400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr14:69061800-69066600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:69061800-69070400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:69062000-69064600	Weak transcription	HMEC	breast
43	chr14:69062000-69065000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:69062200-69064600	Weak transcription	A549	lung
45	chr14:69062200-69064800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr14:69062200-69064800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:69062200-69064800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:69062200-69064800	Weak transcription	Fetal Kidney	kidney
49	chr14:69062200-69065000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr14:69062200-69065200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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