Variant report

Variant	rs62325182
Chromosome Location	chr4:99942798-99942799
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:99942688-99942928	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr4:99942466-99943080	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF143	chr4:99942660-99942816	K562	blood:	n/a	n/a
4	CBX3	chr4:99942440-99943006	K562	blood:	n/a	n/a
5	KAP1	chr4:99942338-99942838	K562	blood:	n/a	n/a
6	POLR2A	chr4:99942637-99942874	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr4:99942780-99942836	H1-hESC	embryonic stem cell:	n/a	n/a
8	SETDB1	chr4:99942460-99942895	U2OS	brain:	n/a	n/a
9	KAP1	chr4:99942465-99942927	HEK293	kidney:	n/a	n/a
10	CBX3	chr4:99942550-99942899	K562	blood:	n/a	n/a
11	POLR2A	chr4:99942684-99942862	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:99942650..99945674-chr6:26595832..26598932,6	K562	blood:
2	chr4:99942655..99945658-chr6:26596311..26598592,3	MCF-7	breast:
3	chr4:99919795..99924184-chr4:99939427..99943074,3	K562	blood:
4	chr4:99915525..99918321-chr4:99942451..99944575,2	K562	blood:
5	chr4:99915704..99918928-chr4:99937972..99943367,6	MCF-7	breast:

No data

Variant related genes	Relation type
METAP1	TF binding region
ENSG00000146109	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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323238	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[AFR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323249	1.00[AFR][1000 genomes];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[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]
rs62323259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325161	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325189	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62325190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62325192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325198	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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325210	1.00[AFR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325238	1.00[AFR][1000 genomes];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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99924200-99943600	Weak transcription	Gastric	stomach
2	chr4:99931600-99971400	Weak transcription	Aorta	Aorta
3	chr4:99932600-99969800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:99934800-99944800	Weak transcription	Small Intestine	intestine
5	chr4:99935000-99945400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:99935400-99945600	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:99935600-99944400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr4:99937200-99943600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
9	chr4:99937600-99944400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:99937600-99966200	Weak transcription	HUVEC	blood vessel
11	chr4:99938200-99944400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:99938800-99944400	ZNF genes & repeats	Fetal Muscle Leg	muscle
13	chr4:99938800-99945600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:99939400-99944400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr4:99939600-99943400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr4:99939800-99943600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr4:99940000-99942800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:99940000-99944000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr4:99940200-99944000	ZNF genes & repeats	Fetal Intestine Small	intestine
20	chr4:99940600-99943200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
21	chr4:99940800-99942800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:99940800-99944000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
23	chr4:99940800-99944200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr4:99940800-99944400	ZNF genes & repeats	GM12878-XiMat	blood
25	chr4:99941000-99944200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:99941000-99944400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:99941000-99944400	ZNF genes & repeats	Fetal Thymus	thymus
28	chr4:99941200-99942800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:99941200-99942800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:99941200-99943000	ZNF genes & repeats	HMEC	breast
31	chr4:99941400-99943000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:99941400-99943000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
33	chr4:99941400-99943000	ZNF genes & repeats	Thymus	Thymus
34	chr4:99941400-99943200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:99941400-99943600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:99941400-99944000	ZNF genes & repeats	Fetal Intestine Large	intestine
37	chr4:99941400-99944200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:99941400-99944400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:99941400-99944400	ZNF genes & repeats	Fetal Stomach	stomach
40	chr4:99941600-99942800	ZNF genes & repeats	HepG2	liver
41	chr4:99941600-99943200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
42	chr4:99941600-99943800	ZNF genes & repeats	K562	blood
43	chr4:99941600-99944200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:99941600-99944200	ZNF genes & repeats	Primary B cells from cord blood	blood
45	chr4:99941600-99944400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:99941800-99942800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
47	chr4:99941800-99942800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
48	chr4:99941800-99943000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:99941800-99943000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:99941800-99943000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood

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