Variant report

Variant	rs62323259
Chromosome Location	chr4:99940090-99940091
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99919795..99924184-chr4:99939427..99943074,3	K562	blood:
2	chr4:99848584..99850090-chr4:99938433..99940384,2	K562	blood:
3	chr4:99923556..99925433-chr4:99938321..99940306,2	MCF-7	breast:
4	chr4:99915614..99918719-chr4:99939311..99942052,3	K562	blood:
5	chr4:99936357..99938294-chr4:99938962..99941752,2	K562	blood:
6	chr4:99915345..99918383-chr4:99938003..99941367,3	MCF-7	breast:
7	chr4:99915704..99918928-chr4:99937972..99943367,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263923	Chromatin interaction
ENSG00000164024	Chromatin interaction
ENSG00000265213	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10002449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10084896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17028370	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28659806	0.96[EUR][1000 genomes]
rs28720156	0.83[AMR][1000 genomes]
rs28730581	0.81[EUR][1000 genomes]
rs28730584	0.81[EUR][1000 genomes]
rs28730596	0.81[EUR][1000 genomes]
rs28730611	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28730617	0.81[EUR][1000 genomes]
rs28730625	0.81[EUR][1000 genomes]
rs28730641	0.81[EUR][1000 genomes]
rs28730643	0.81[EUR][1000 genomes]
rs28730644	0.81[EUR][1000 genomes]
rs28730645	0.81[EUR][1000 genomes]
rs28730646	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28730649	0.81[EUR][1000 genomes]
rs28894370	0.81[EUR][1000 genomes]
rs28894371	0.83[AMR][1000 genomes]
rs29001228	0.83[AMR][1000 genomes]
rs29001338	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs29001342	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs29001346	0.81[EUR][1000 genomes]
rs29001348	0.81[EUR][1000 genomes]
rs5003497	0.81[EUR][1000 genomes]
rs55831712	1.00[EUR][1000 genomes]
rs61431883	0.81[EUR][1000 genomes]
rs62323213	1.00[EUR][1000 genomes]
rs62323214	1.00[EUR][1000 genomes]
rs62323216	1.00[EUR][1000 genomes]
rs62323217	1.00[EUR][1000 genomes]
rs62323230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323234	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323235	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323240	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323241	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323242	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323245	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62323246	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323247	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323250	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323251	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323253	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323254	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323255	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323257	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323258	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325182	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325185	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325189	1.00[EUR][1000 genomes]
rs62325190	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62325192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325197	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325198	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325201	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325204	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325206	1.00[EUR][1000 genomes]
rs62325208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325211	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325212	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325213	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325239	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62325240	0.81[EUR][1000 genomes]
rs62325241	0.81[EUR][1000 genomes]
rs62325242	0.81[EUR][1000 genomes]
rs62325245	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6532781	0.81[EUR][1000 genomes]
rs6532792	0.81[EUR][1000 genomes]
rs6819694	0.81[EUR][1000 genomes]
rs6819724	0.81[EUR][1000 genomes]
rs6822742	0.81[EUR][1000 genomes]
rs6823388	0.81[EUR][1000 genomes]
rs6827292	0.81[EUR][1000 genomes]
rs72897156	0.81[EUR][1000 genomes]
rs7667261	0.81[EUR][1000 genomes]
rs7679102	0.81[EUR][1000 genomes]
rs7681427	0.81[EUR][1000 genomes]
rs7687322	0.81[EUR][1000 genomes]
rs9995869	1.00[EUR][1000 genomes]

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:69 , 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	chr4:99929200-99940600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:99929200-99940800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:99930600-99941400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr4:99930600-99941400	Weak transcription	NHEK	skin
13	chr4:99931600-99971400	Weak transcription	Aorta	Aorta
14	chr4:99931800-99940600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr4:99932000-99940200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr4:99932600-99969800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:99934000-99941600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:99934200-99941600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:99934600-99941200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:99934800-99944800	Weak transcription	Small Intestine	intestine
21	chr4:99935000-99941000	Weak transcription	HMEC	breast
22	chr4:99935000-99945400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:99935400-99940800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:99935400-99941400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:99935400-99941600	Weak transcription	HepG2	liver
26	chr4:99935400-99945600	Weak transcription	Colon Smooth Muscle	Colon
27	chr4:99935600-99940400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:99935600-99941800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:99935600-99944400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr4:99935800-99941600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:99936200-99942200	Weak transcription	Psoas Muscle	Psoas
32	chr4:99936200-99942400	Weak transcription	Lung	lung
33	chr4:99936400-99941800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr4:99936600-99941600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr4:99936800-99942400	Weak transcription	Right Atrium	heart
36	chr4:99937000-99940800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:99937200-99941600	Weak transcription	Left Ventricle	heart
38	chr4:99937200-99943600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr4:99937400-99940200	Weak transcription	Fetal Intestine Small	intestine
40	chr4:99937400-99941600	Strong transcription	Primary B cells from cord blood	blood
41	chr4:99937600-99944400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:99937600-99966200	Weak transcription	HUVEC	blood vessel
43	chr4:99938000-99941400	Weak transcription	Fetal Stomach	stomach
44	chr4:99938200-99940600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:99938200-99941000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:99938200-99944400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:99938400-99941400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:99938400-99942000	Weak transcription	NHDF-Ad	bronchial
49	chr4:99938600-99941400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:99938600-99941600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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