Variant report

Variant	rs7623980
Chromosome Location	chr3:140795478-140795479
allele	C/G
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	KAP1	chr3:140795127-140796457	HEK293	kidney:	n/a	n/a
2	KAP1	chr3:140795275-140796480	U2OS	brain:	n/a	n/a
3	BHLHE40	chr3:140795322-140795650	K562	blood:	n/a	n/a
4	TAL1	chr3:140795327-140795552	K562	blood:	n/a	n/a
5	REST	chr3:140795478-140796579	H1-neurons	neurons:	n/a	chr3:140795537-140795550 chr3:140796464-140796473
6	POLR2A	chr3:140795446-140796095	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
SPSB4	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11713925	1.00[CHB][hapmap]
rs1426965	0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1426966	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16851040	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16851042	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16851043	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16851045	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16851047	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57086788	1.00[EUR][1000 genomes]
rs57164953	1.00[EUR][1000 genomes]
rs60787216	1.00[EUR][1000 genomes]
rs61201233	0.86[ASN][1000 genomes]
rs6439978	1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6774862	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775066	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6777560	1.00[EUR][1000 genomes]
rs6798242	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72978075	0.86[ASN][1000 genomes]
rs72980158	1.00[EUR][1000 genomes]
rs72980166	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72980168	1.00[EUR][1000 genomes]
rs72980172	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7624238	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7624581	1.00[EUR][1000 genomes]

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140788200-140797200	Enhancers	H9 Cell Line	embryonic stem cell
2	chr3:140789000-140797600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:140789400-140795800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr3:140789600-140798000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:140790600-140802800	Weak transcription	Dnd41	blood
6	chr3:140791200-140796400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:140791800-140797400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr3:140792000-140797400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr3:140792200-140797400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:140792400-140795600	Enhancers	Fetal Muscle Leg	muscle
11	chr3:140792400-140796000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:140792400-140797400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:140792400-140797800	Enhancers	Pancreas	Pancrea
14	chr3:140792600-140797800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:140792800-140808400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:140793400-140806600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:140793800-140797800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr3:140794000-140797400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:140794000-140797800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:140794000-140813000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:140794200-140797800	Enhancers	Placenta	Placenta
22	chr3:140794600-140795600	Enhancers	Fetal Muscle Trunk	muscle
23	chr3:140794600-140795800	Enhancers	Fetal Stomach	stomach
24	chr3:140794800-140795800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr3:140794800-140795800	Enhancers	Fetal Kidney	kidney
26	chr3:140794800-140800600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:140795000-140795600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:140795000-140795600	Enhancers	Adipose Nuclei	Adipose
29	chr3:140795000-140795600	Enhancers	Brain Angular Gyrus	brain
30	chr3:140795000-140795600	Enhancers	Brain Anterior Caudate	brain
31	chr3:140795000-140795800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:140795000-140795800	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr3:140795000-140795800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr3:140795000-140795800	Enhancers	Fetal Thymus	thymus
35	chr3:140795000-140795800	Enhancers	Left Ventricle	heart
36	chr3:140795000-140795800	Enhancers	Psoas Muscle	Psoas
37	chr3:140795000-140795800	Enhancers	Right Ventricle	heart
38	chr3:140795000-140795800	Enhancers	Spleen	Spleen
39	chr3:140795000-140796000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr3:140795000-140796200	Enhancers	Esophagus	oesophagus
41	chr3:140795000-140796400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr3:140795000-140796400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:140795000-140796600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr3:140795000-140796600	Enhancers	Stomach Mucosa	stomach
45	chr3:140795000-140796800	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr3:140795000-140796800	Flanking Active TSS	HSMMtube	muscle
47	chr3:140795000-140797000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:140795000-140797200	Enhancers	Fetal Brain Male	brain
49	chr3:140795000-140797200	Enhancers	Fetal Intestine Large	intestine
50	chr3:140795000-140797400	Enhancers	Lung	lung

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