Variant report

Variant	rs2688202
Chromosome Location	chr5:154236269-154236270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr5:154235497-154238305	K562	blood:	n/a	n/a
2	EP300	chr5:154236009-154236335	K562	blood:	n/a	n/a
3	POLR2A	chr5:154236236-154238806	HepG2	liver:	n/a	n/a
4	RCOR1	chr5:154236132-154236332	K562	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:154212721..154214972-chr5:154234901..154239444,4	K562	blood:
2	chr5:154206588..154209257-chr5:154235210..154237943,2	K562	blood:
3	chr5:154214026..154216712-chr5:154234654..154237422,2	K562	blood:
4	chr5:154133224..154141155-chr5:154235246..154242227,24	MCF-7	breast:
5	chr5:154228281..154231986-chr5:154234217..154239374,12	MCF-7	breast:
6	chr5:154133665..154137234-chr5:154235811..154241105,6	MCF-7	breast:
7	chr5:154236188..154239312-chr5:154315571..154321975,7	MCF-7	breast:
8	chr5:154133563..154137747-chr5:154235219..154239187,9	K562	blood:
9	chr5:154133598..154138734-chr5:154235660..154239806,12	K562	blood:
10	chr5:154224707..154230790-chr5:154235604..154239293,10	K562	blood:
11	chr5:154235909..154239670-chr5:154316883..154321797,7	K562	blood:
12	chr5:154235585..154240256-chr5:154317008..154321464,8	K562	blood:
13	chr5:154189092..154191650-chr5:154236048..154238610,3	MCF-7	breast:
14	chr5:154205913..154219158-chr5:154234172..154242635,38	MCF-7	breast:

No data

Variant related genes	Relation type
CNOT8	TF binding region
ENSG00000082516	Chromatin interaction
ENSG00000155506	Chromatin interaction
ENSG00000082515	Chromatin interaction
ENSG00000170271	Chromatin interaction
ENSG00000263361	Chromatin interaction

Extended variants
information (count: 155 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:154)

rs_ID	r²[population]
rs10042134	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1233077	0.88[ASN][1000 genomes]
rs13181649	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390598	0.85[EUR][1000 genomes]
rs1390600	0.85[EUR][1000 genomes]
rs1390601	0.85[EUR][1000 genomes]
rs1390602	0.85[EUR][1000 genomes]
rs1390603	0.85[EUR][1000 genomes]
rs164192	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164193	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164194	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164196	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164197	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs164198	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs164199	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17116671	0.86[EUR][1000 genomes]
rs17116677	0.85[EUR][1000 genomes]
rs17116679	0.85[EUR][1000 genomes]
rs17116683	0.85[EUR][1000 genomes]
rs17116701	0.85[EUR][1000 genomes]
rs17570361	0.85[EUR][1000 genomes]
rs180903	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs184703	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs185323	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186998	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs189439	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059045	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112219	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2112222	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544827	1.00[EUR][1000 genomes]
rs2544862	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544870	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544871	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2544872	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544873	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544877	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544881	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544882	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544883	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2544885	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2544887	0.90[EUR][1000 genomes]
rs255530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2560069	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2644745	1.00[ASN][1000 genomes]
rs2644747	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2644748	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2688183	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2688185	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2688192	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2688209	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs32426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346572	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346573	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348734	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348736	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348737	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348738	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348746	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348753	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs348755	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs348758	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3776982	1.00[ASN][1000 genomes]
rs39615	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs39953	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs40584	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958393	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958769	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958770	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958772	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4958774	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58395756	0.85[EUR][1000 genomes]
rs59025588	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59919514	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60476447	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60906140	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61511229	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61554631	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6580117	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580118	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580119	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580121	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580124	0.85[EUR][1000 genomes]
rs6879093	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs702743	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276745	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276760	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73276766	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73276769	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73276780	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73278805	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73278819	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73278843	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280717	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280724	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280726	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280747	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280749	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280750	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280761	0.90[EUR][1000 genomes]
rs73280762	0.90[EUR][1000 genomes]
rs73280768	0.90[EUR][1000 genomes]
rs73280770	0.85[EUR][1000 genomes]
rs73280778	0.85[EUR][1000 genomes]
rs73280785	0.85[EUR][1000 genomes]
rs73280786	0.85[EUR][1000 genomes]
rs73280788	0.85[EUR][1000 genomes]
rs73280792	0.85[EUR][1000 genomes]
rs73280795	0.85[EUR][1000 genomes]
rs73280797	0.81[EUR][1000 genomes]
rs73280799	0.85[EUR][1000 genomes]
rs73282508	0.85[EUR][1000 genomes]
rs73282513	0.85[EUR][1000 genomes]
rs73282516	0.85[EUR][1000 genomes]
rs73282519	0.85[EUR][1000 genomes]
rs73282521	0.85[EUR][1000 genomes]
rs73282523	0.85[EUR][1000 genomes]
rs73282525	0.85[EUR][1000 genomes]
rs73282527	0.85[EUR][1000 genomes]
rs73282528	0.85[EUR][1000 genomes]
rs73282533	0.85[EUR][1000 genomes]
rs73282538	0.85[EUR][1000 genomes]
rs73282539	0.85[EUR][1000 genomes]
rs73282553	0.85[EUR][1000 genomes]
rs73282555	0.85[EUR][1000 genomes]
rs73282558	0.85[EUR][1000 genomes]
rs7703040	0.85[EUR][1000 genomes]
rs7703227	0.85[EUR][1000 genomes]
rs7703386	0.85[EUR][1000 genomes]
rs7703765	0.85[EUR][1000 genomes]
rs7719208	0.85[EUR][1000 genomes]
rs7720521	0.94[ASN][1000 genomes]
rs7720538	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7722949	0.85[EUR][1000 genomes]
rs7723741	0.85[EUR][1000 genomes]
rs7724303	0.85[EUR][1000 genomes]
rs7724660	0.85[EUR][1000 genomes]
rs7727176	0.81[EUR][1000 genomes]
rs7733367	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816716	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs816724	0.95[EUR][1000 genomes]
rs816725	0.85[EUR][1000 genomes]
rs816733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816736	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816737	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816738	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs816739	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816740	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816742	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816744	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816745	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816746	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816748	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs863650	0.81[AMR][1000 genomes];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	nsv830521	chr5:154147567-154244266	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154214800-154236400	Weak transcription	GM12878-XiMat	blood
2	chr5:154215200-154236400	Weak transcription	A549	lung
3	chr5:154219000-154236600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:154230200-154236400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:154230200-154236400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:154230200-154236800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:154230600-154236400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:154230600-154236600	Weak transcription	Primary B cells from cord blood	blood
9	chr5:154230600-154236600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr5:154230800-154236400	Weak transcription	Fetal Brain Female	brain
11	chr5:154230800-154236400	Weak transcription	HMEC	breast
12	chr5:154230800-154236400	Weak transcription	HUVEC	blood vessel
13	chr5:154230800-154236400	Weak transcription	NH-A	brain
14	chr5:154230800-154236400	Weak transcription	NHEK	skin
15	chr5:154230800-154236600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:154230800-154236600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:154230800-154236600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:154230800-154236600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr5:154230800-154236600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:154230800-154236600	Weak transcription	Aorta	Aorta
21	chr5:154230800-154236600	Weak transcription	Colonic Mucosa	Colon
22	chr5:154230800-154236600	Weak transcription	Fetal Intestine Large	intestine
23	chr5:154231000-154236400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:154231000-154236400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:154231000-154236400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:154231000-154236400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:154231000-154236400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:154231000-154236400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr5:154231000-154236400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:154231000-154236400	Weak transcription	Right Ventricle	heart
31	chr5:154231000-154236400	Weak transcription	HSMM	muscle
32	chr5:154231000-154236400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr5:154231000-154236600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:154231000-154236600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:154231000-154236600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr5:154231000-154236600	Weak transcription	Primary T cells from cord blood	blood
37	chr5:154231200-154236400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:154231200-154236400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:154231200-154236400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr5:154231200-154236400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:154231200-154236400	Weak transcription	Adipose Nuclei	Adipose
42	chr5:154231200-154236400	Weak transcription	Brain Angular Gyrus	brain
43	chr5:154231200-154236400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr5:154231200-154236400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr5:154231200-154236400	Weak transcription	Fetal Heart	heart
46	chr5:154231200-154236400	Weak transcription	NHLF	lung
47	chr5:154231200-154236400	Weak transcription	Osteobl	bone
48	chr5:154231200-154236600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr5:154231200-154236600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:154231400-154236400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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