Variant report

Variant	rs4903023
Chromosome Location	chr14:72917326-72917327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:72917325-72917906	H1-neurons	neurons:	n/a	n/a
2	MAFK	chr14:72917167-72919014	GM12878	blood:	n/a	chr14:72918368-72918383

Variant related genes	Relation type
RGS6	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1004477	0.82[JPT][hapmap]
rs1860152	0.82[JPT][hapmap]
rs2238182	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2238190	0.82[JPT][hapmap]
rs4903027	0.82[GIH][hapmap]
rs7143134	0.80[CHD][hapmap];0.82[JPT][hapmap];0.85[LWK][hapmap];0.83[AFR][1000 genomes]
rs7159438	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7160223	0.85[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.91[ASN][1000 genomes]
rs719064	0.87[JPT][hapmap]
rs740536	0.82[JPT][hapmap]

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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4903023	NUMB	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72908400-72917600	Weak transcription	Lung	lung
2	chr14:72911800-72917600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:72912000-72917400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr14:72912200-72917400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:72913600-72917400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:72913800-72922600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:72916000-72917800	Enhancers	Brain Germinal Matrix	brain
8	chr14:72916200-72917600	Enhancers	GM12878-XiMat	blood
9	chr14:72916200-72920000	Enhancers	Fetal Stomach	stomach
10	chr14:72916400-72917400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:72916400-72917400	Weak transcription	Colon Smooth Muscle	Colon
12	chr14:72916400-72917600	Enhancers	Dnd41	blood
13	chr14:72916400-72917800	Enhancers	Primary T cells from cord blood	blood
14	chr14:72916400-72919800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr14:72916600-72917600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:72916600-72917600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr14:72916600-72917600	Weak transcription	Left Ventricle	heart
18	chr14:72916600-72919000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:72917000-72917800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:72917000-72917800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:72917000-72917800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:72917000-72918400	Enhancers	Fetal Lung	lung
23	chr14:72917200-72917400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr14:72917200-72917400	Active TSS	Stomach Smooth Muscle	stomach
25	chr14:72917200-72917600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr14:72917200-72917800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr14:72917200-72917800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr14:72917200-72918000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr14:72917200-72918000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr14:72917200-72918000	Enhancers	Brain Substantia Nigra	brain
31	chr14:72917200-72919000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:72917200-72919200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:72917200-72919600	Enhancers	Primary hematopoietic stem cells	blood
34	chr14:72917200-72919800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:72917200-72919800	Enhancers	Fetal Kidney	kidney
36	chr14:72917200-72919800	Enhancers	Fetal Muscle Leg	muscle

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