Variant report

Variant	rs74058210
Chromosome Location	chr14:65222217-65222218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65221170..65226335-chr14:65227109..65232798,8	MCF-7	breast:
2	chr14:65221708..65223520-chr14:65425560..65427904,2	MCF-7	breast:
3	chr14:65221435..65224079-chr19:50143616..50145558,2	MCF-7	breast:
4	chr14:65201615..65203157-chr14:65220105..65223085,2	K562	blood:
5	chr14:65168373..65176902-chr14:65220182..65231670,21	MCF-7	breast:
6	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:
7	chr14:65212266..65214655-chr14:65220230..65222860,3	MCF-7	breast:
8	chr14:65185854..65191054-chr14:65221241..65225762,8	MCF-7	breast:
9	chr14:65207698..65210680-chr14:65221947..65223874,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000126461	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000070182	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs229576	0.91[ASN][1000 genomes]
rs36093510	0.83[AMR][1000 genomes]
rs58725048	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74058211	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv902023	chr14:65200821-65243885	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv902024	chr14:65200821-65244950	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs74058210	SPTB	cis	occipital cortex	BrainEAC
rs74058210	C14orf50	cis	occipital cortex	BrainEAC

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65208600-65222400	Weak transcription	Stomach Mucosa	stomach
2	chr14:65209800-65223600	Weak transcription	Psoas Muscle	Psoas
3	chr14:65211200-65228800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:65212000-65224400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:65212800-65224200	Weak transcription	Aorta	Aorta
6	chr14:65214000-65223600	Weak transcription	Right Atrium	heart
7	chr14:65214200-65224800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:65214400-65224200	Weak transcription	Fetal Lung	lung
9	chr14:65214400-65224400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:65214400-65224600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:65214400-65224600	Weak transcription	Fetal Kidney	kidney
12	chr14:65214600-65224600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:65214800-65224600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:65215000-65224800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:65215200-65224600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:65215200-65232400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:65215400-65223600	Weak transcription	Gastric	stomach
18	chr14:65215400-65224600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr14:65215400-65224800	Weak transcription	Brain Substantia Nigra	brain
20	chr14:65215600-65224600	Weak transcription	Brain Angular Gyrus	brain
21	chr14:65216200-65224400	Weak transcription	Brain Anterior Caudate	brain
22	chr14:65216800-65222400	Weak transcription	Esophagus	oesophagus
23	chr14:65216800-65223400	Weak transcription	Left Ventricle	heart
24	chr14:65216800-65223600	Weak transcription	Right Ventricle	heart
25	chr14:65216800-65224000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:65216800-65224400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:65216800-65224600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr14:65216800-65224800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr14:65216800-65225000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:65217000-65224400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:65217400-65222400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:65217400-65222800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:65217400-65224400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:65217400-65224400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr14:65219400-65230000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:65219800-65228600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:65220000-65223600	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:65220000-65225400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr14:65220600-65225800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:65220600-65232200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:65220800-65233000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:65221000-65224600	Enhancers	NHEK	skin
43	chr14:65221200-65222400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr14:65221200-65228800	Enhancers	HMEC	breast
45	chr14:65221200-65231600	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr14:65221200-65231600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:65221400-65222400	Enhancers	Hela-S3	cervix
48	chr14:65221400-65229800	Enhancers	Pancreas	Pancrea
49	chr14:65221400-65230000	Enhancers	Fetal Intestine Small	intestine
50	chr14:65221400-65231600	Enhancers	Spleen	Spleen

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