Variant report

Variant	rs62289166
Chromosome Location	chr4:6969163-6969164
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:6953603..6955195-chr4:6967201..6969667,2	K562	blood:
2	chr4:6964966..6966973-chr4:6967560..6969658,4	MCF-7	breast:
3	chr4:6962320..6964054-chr4:6967764..6970067,3	K562	blood:
4	chr4:6968058..6971311-chr4:6972075..6975359,5	K562	blood:
5	chr4:6918816..6920459-chr4:6968873..6971872,2	MCF-7	breast:
6	chr4:6966970..6969558-chr4:6972075..6974539,2	K562	blood:

Variant related genes	Relation type
ENSG00000265953	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10012590	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10025310	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10516181	0.81[ASN][1000 genomes]
rs10937776	0.81[ASN][1000 genomes]
rs11732898	0.81[ASN][1000 genomes]
rs11938701	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944897	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12502513	0.81[ASN][1000 genomes]
rs12503027	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12510715	0.81[ASN][1000 genomes]
rs12512484	0.84[AMR][1000 genomes]
rs13107989	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13108082	0.86[ASN][1000 genomes]
rs13111887	0.86[ASN][1000 genomes]
rs13122119	0.93[ASN][1000 genomes]
rs13148395	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13149411	0.93[ASN][1000 genomes]
rs13149923	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2301817	1.00[ASN][1000 genomes]
rs2301818	0.93[ASN][1000 genomes]
rs2301819	0.93[ASN][1000 genomes]
rs2359194	0.81[ASN][1000 genomes]
rs3188939	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34219101	0.86[ASN][1000 genomes]
rs34221933	1.00[ASN][1000 genomes]
rs34335938	0.93[ASN][1000 genomes]
rs34379427	0.86[AMR][1000 genomes]
rs34463709	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34481892	0.93[ASN][1000 genomes]
rs34860182	0.86[AMR][1000 genomes]
rs34953654	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34959511	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34990775	0.86[AMR][1000 genomes]
rs35170004	0.93[ASN][1000 genomes]
rs35680216	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3857171	0.81[ASN][1000 genomes]
rs3892490	0.86[ASN][1000 genomes]
rs3894945	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4234788	0.86[ASN][1000 genomes]
rs4234791	0.93[ASN][1000 genomes]
rs4234793	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4544710	1.00[ASN][1000 genomes]
rs4689056	0.86[AMR][1000 genomes]
rs4689560	0.84[AMR][1000 genomes]
rs4689563	0.93[ASN][1000 genomes]
rs4689564	0.93[ASN][1000 genomes]
rs4689565	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4689566	0.81[ASN][1000 genomes]
rs4689567	0.81[ASN][1000 genomes]
rs4689568	0.81[ASN][1000 genomes]
rs4689573	0.81[ASN][1000 genomes]
rs4689575	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689577	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4689578	0.80[EUR][1000 genomes]
rs4689579	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55822670	0.86[ASN][1000 genomes]
rs6446559	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66530709	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs66640699	0.93[ASN][1000 genomes]
rs66841627	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs66931928	0.93[ASN][1000 genomes]
rs66992702	0.93[ASN][1000 genomes]
rs6811496	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6816660	0.86[ASN][1000 genomes]
rs6816882	0.86[ASN][1000 genomes]
rs6818744	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6831129	0.86[ASN][1000 genomes]
rs6834102	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6839250	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6840780	1.00[ASN][1000 genomes]
rs6854776	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7655563	0.81[ASN][1000 genomes]
rs7655773	1.00[ASN][1000 genomes]
rs7658198	0.86[ASN][1000 genomes]
rs7661462	0.86[ASN][1000 genomes]
rs7661952	1.00[ASN][1000 genomes]
rs7673901	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675524	0.81[ASN][1000 genomes]
rs7685667	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7693321	0.81[ASN][1000 genomes]
rs9291126	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6928000-6969600	Weak transcription	Aorta	Aorta
2	chr4:6945000-6970200	Weak transcription	Hela-S3	cervix
3	chr4:6955800-6976000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:6956000-6976000	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:6956400-6969200	Weak transcription	K562	blood
6	chr4:6957600-6970400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:6957600-6973800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:6957600-6976000	Weak transcription	Fetal Lung	lung
9	chr4:6957800-6976000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:6958400-6975800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:6958800-6969400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:6962200-6969600	Weak transcription	Fetal Brain Female	brain
13	chr4:6964200-6969600	Weak transcription	Esophagus	oesophagus
14	chr4:6964200-6976000	Weak transcription	Brain Germinal Matrix	brain
15	chr4:6964800-6969400	Weak transcription	Fetal Stomach	stomach
16	chr4:6964800-6969600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr4:6964800-6973400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:6965000-6976000	Weak transcription	A549	lung
19	chr4:6965200-6969200	Weak transcription	Colonic Mucosa	Colon
20	chr4:6965200-6969600	Weak transcription	Right Atrium	heart
21	chr4:6965200-6970400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:6965200-6971600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:6965200-6973400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:6965200-6976000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr4:6965200-6976000	Weak transcription	Stomach Mucosa	stomach
26	chr4:6965200-6976200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:6965400-6969200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr4:6965400-6969200	Weak transcription	Adipose Nuclei	Adipose
29	chr4:6965400-6969200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr4:6965400-6969200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr4:6965400-6969400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:6965400-6969400	Weak transcription	Brain Anterior Caudate	brain
33	chr4:6965400-6969600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:6965400-6969600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:6965400-6969600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:6965400-6969600	Weak transcription	Left Ventricle	heart
37	chr4:6965400-6969600	Weak transcription	Lung	lung
38	chr4:6965400-6969600	Weak transcription	Right Ventricle	heart
39	chr4:6965400-6969600	Weak transcription	HUVEC	blood vessel
40	chr4:6965400-6969800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr4:6965400-6970000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:6965400-6973000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:6965400-6973000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:6965400-6973200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:6965400-6973400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr4:6965400-6973400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr4:6965400-6973600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr4:6965400-6974600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr4:6965400-6976000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:6965400-6976000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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