Variant report

Variant	rs10016708
Chromosome Location	chr4:99941190-99941191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99940234..99942578-chr4:99952966..99955722,2	K562	blood:
2	chr4:99919795..99924184-chr4:99939427..99943074,3	K562	blood:
3	chr4:99915614..99918719-chr4:99939311..99942052,3	K562	blood:
4	chr4:99936357..99938294-chr4:99938962..99941752,2	K562	blood:
5	chr4:99915345..99918383-chr4:99938003..99941367,3	MCF-7	breast:
6	chr4:99915704..99918928-chr4:99937972..99943367,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164024	Chromatin interaction
ENSG00000265213	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10018631	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs10034645	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs10084896	1.00[YRI][hapmap]
rs28419466	1.00[AFR][1000 genomes]
rs28550936	0.89[AFR][1000 genomes]
rs28575896	0.84[AFR][1000 genomes]
rs28591457	1.00[AFR][1000 genomes]
rs28594750	0.96[AFR][1000 genomes]
rs28664730	0.82[AFR][1000 genomes]
rs28676415	0.89[AFR][1000 genomes]
rs28792701	0.93[AFR][1000 genomes]
rs28800592	0.84[AFR][1000 genomes]
rs28894706	0.96[AFR][1000 genomes]
rs6832697	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs6846251	0.89[AFR][1000 genomes]
rs7356160	0.91[YRI][hapmap]
rs7356519	0.90[YRI][hapmap]
rs7356525	0.91[YRI][hapmap]
rs9307232	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs9884237	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs9996051	0.91[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99919200-99942000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr4:99924200-99941600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:99924200-99943600	Weak transcription	Gastric	stomach
4	chr4:99924600-99942000	Weak transcription	Fetal Lung	lung
5	chr4:99925600-99941200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:99925600-99941200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:99928400-99941400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:99928600-99942400	Weak transcription	Esophagus	oesophagus
9	chr4:99930600-99941400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:99930600-99941400	Weak transcription	NHEK	skin
11	chr4:99931600-99971400	Weak transcription	Aorta	Aorta
12	chr4:99932600-99969800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:99934000-99941600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:99934200-99941600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:99934600-99941200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:99934800-99944800	Weak transcription	Small Intestine	intestine
17	chr4:99935000-99945400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:99935400-99941400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:99935400-99941600	Weak transcription	HepG2	liver
20	chr4:99935400-99945600	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:99935600-99941800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:99935600-99944400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr4:99935800-99941600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:99936200-99942200	Weak transcription	Psoas Muscle	Psoas
25	chr4:99936200-99942400	Weak transcription	Lung	lung
26	chr4:99936400-99941800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr4:99936600-99941600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr4:99936800-99942400	Weak transcription	Right Atrium	heart
29	chr4:99937200-99941600	Weak transcription	Left Ventricle	heart
30	chr4:99937200-99943600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr4:99937400-99941600	Strong transcription	Primary B cells from cord blood	blood
32	chr4:99937600-99944400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:99937600-99966200	Weak transcription	HUVEC	blood vessel
34	chr4:99938000-99941400	Weak transcription	Fetal Stomach	stomach
35	chr4:99938200-99944400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:99938400-99941400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:99938400-99942000	Weak transcription	NHDF-Ad	bronchial
38	chr4:99938600-99941400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:99938600-99941600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:99938800-99941400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:99938800-99941800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:99938800-99944400	ZNF genes & repeats	Fetal Muscle Leg	muscle
43	chr4:99938800-99945600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:99939200-99941400	Weak transcription	Fetal Intestine Large	intestine
45	chr4:99939400-99942000	Weak transcription	A549	lung
46	chr4:99939400-99944400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr4:99939600-99943400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
48	chr4:99939800-99941400	Strong transcription	Thymus	Thymus
49	chr4:99939800-99942600	ZNF genes & repeats	Dnd41	blood
50	chr4:99939800-99943600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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