Variant report

Variant	rs10138953
Chromosome Location	chr14:69277745-69277746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69276296..69278428-chr14:69281559..69284109,2	K562	blood:
2	chr14:68281799..68283373-chr14:69277019..69279798,2	MCF-7	breast:
3	chr14:68775195..68777940-chr14:69277333..69279325,2	MCF-7	breast:
4	chr14:69276177..69278251-chr20:45985801..45987904,2	MCF-7	breast:
5	chr14:69273277..69275385-chr14:69276944..69279019,2	K562	blood:
6	chr14:69270505..69278428-chr14:69279681..69285729,13	K562	blood:

Variant related genes	Relation type
ENSG00000072121	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10138717	0.84[EUR][1000 genomes]
rs11158766	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28490497	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61985015	0.90[EUR][1000 genomes]
rs7153919	0.84[EUR][1000 genomes]
rs7155978	0.90[EUR][1000 genomes]
rs7159916	0.84[EUR][1000 genomes]
rs8016829	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69264200-69277800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:69264400-69281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:69271600-69281200	Enhancers	Fetal Muscle Leg	muscle
4	chr14:69271600-69281200	Enhancers	Fetal Stomach	stomach
5	chr14:69272400-69278600	Enhancers	Fetal Muscle Trunk	muscle
6	chr14:69272400-69279200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr14:69274000-69278400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr14:69274000-69278400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:69274000-69278800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr14:69274000-69281000	Weak transcription	Aorta	Aorta
11	chr14:69274000-69281000	Weak transcription	Fetal Brain Male	brain
12	chr14:69274200-69278800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:69274200-69279000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:69274200-69279200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:69274200-69279400	Weak transcription	GM12878-XiMat	blood
16	chr14:69274200-69279600	Weak transcription	Thymus	Thymus
17	chr14:69274200-69280000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:69274200-69280000	Weak transcription	Brain Substantia Nigra	brain
19	chr14:69274200-69280000	Weak transcription	Psoas Muscle	Psoas
20	chr14:69274200-69280800	Enhancers	Primary B cells from peripheral blood	blood
21	chr14:69274200-69281000	Weak transcription	Brain Angular Gyrus	brain
22	chr14:69274400-69278000	Weak transcription	Right Atrium	heart
23	chr14:69274400-69279400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr14:69274400-69279600	Weak transcription	Brain Anterior Caudate	brain
25	chr14:69274400-69280800	Weak transcription	K562	blood
26	chr14:69274400-69281000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:69274400-69281000	Weak transcription	Osteobl	bone
28	chr14:69274600-69277800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:69274600-69278200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:69274600-69278800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:69274600-69279000	Weak transcription	Primary T cells from cord blood	blood
32	chr14:69274600-69280000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:69274600-69280000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:69274600-69280400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:69274600-69280400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr14:69274600-69280400	Weak transcription	NHDF-Ad	bronchial
37	chr14:69274800-69278800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr14:69274800-69280000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr14:69274800-69280000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr14:69274800-69280000	Weak transcription	HepG2	liver
41	chr14:69274800-69280200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr14:69274800-69280800	Weak transcription	HSMM	muscle
43	chr14:69275000-69279200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:69275000-69279200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:69275000-69280000	Weak transcription	Left Ventricle	heart
46	chr14:69275200-69279800	Weak transcription	Small Intestine	intestine
47	chr14:69275200-69280000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr14:69275200-69280000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:69275200-69280000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:69275400-69279800	Weak transcription	Liver	Liver

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