Variant report

Variant	rs17007263
Chromosome Location	chr4:124667071-124667072
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17007235	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17424031	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.94[LWK][hapmap];0.92[MEX][hapmap];0.96[MKK][hapmap];0.85[TSI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17424600	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17489356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17490297	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17755079	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55724213	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56043753	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56142420	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72670541	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72670542	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72670551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9999757	0.91[EUR][1000 genomes];0.84[ASN][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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv964094	chr4:124666829-124667416	Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124663600-124676600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr4:124664400-124667200	Enhancers	Fetal Brain Male	brain
3	chr4:124664600-124667800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr4:124664800-124667200	Enhancers	Colon Smooth Muscle	Colon
5	chr4:124664800-124667200	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr4:124665000-124667200	Enhancers	Fetal Intestine Small	intestine
7	chr4:124665200-124670600	Weak transcription	HSMM	muscle
8	chr4:124665600-124667400	Enhancers	Fetal Lung	lung
9	chr4:124666000-124667200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
10	chr4:124666000-124667200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr4:124666200-124670600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:124666400-124667800	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:124666400-124670600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:124666400-124670600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:124666400-124670600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:124666400-124671000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:124666400-124671200	Weak transcription	Fetal Kidney	kidney
18	chr4:124666400-124671200	Weak transcription	Right Atrium	heart
19	chr4:124666600-124668000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:124666600-124668000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:124666600-124668200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr4:124666600-124669800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:124666600-124670000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:124666600-124670000	Weak transcription	Fetal Intestine Large	intestine
25	chr4:124666600-124670000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr4:124666600-124670400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:124666600-124671000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:124666600-124671200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:124667000-124667200	Enhancers	Aorta	Aorta
30	chr4:124667000-124667200	Enhancers	Brain Anterior Caudate	brain
31	chr4:124667000-124667200	Enhancers	Fetal Muscle Trunk	muscle
32	chr4:124667000-124667200	Enhancers	Psoas Muscle	Psoas
33	chr4:124667000-124670000	Weak transcription	Left Ventricle	heart
34	chr4:124667000-124670600	Weak transcription	Lung	lung

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