Variant report

Variant	rs4608812
Chromosome Location	chr4:6926611-6926612
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:6924422..6927283-chr4:6930396..6933115,3	K562	blood:
2	chr4:6917201..6921579-chr4:6924492..6930074,6	MCF-7	breast:
3	chr4:6909963..6912664-chr4:6925024..6930247,5	MCF-7	breast:
4	chr4:6925139..6926793-chr4:6927424..6929653,2	K562	blood:
5	chr4:6918829..6920609-chr4:6923833..6926676,3	MCF-7	breast:
6	chr4:6922272..6924651-chr4:6925651..6927891,2	MCF-7	breast:
7	chr4:6863476..6866254-chr4:6925496..6927606,2	K562	blood:
8	chr4:6921707..6924021-chr4:6925903..6927996,2	K562	blood:

Variant related genes	Relation type
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10009332	0.82[ASN][1000 genomes]
rs10012305	0.94[ASN][1000 genomes]
rs10013211	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10015163	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs10019900	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10804990	0.94[JPT][hapmap]
rs10937762	0.89[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs10937763	0.95[JPT][hapmap]
rs10937766	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10937768	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs10937769	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10937771	0.82[ASN][1000 genomes]
rs11723686	0.81[ASN][1000 genomes]
rs11728984	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs11731681	0.80[ASN][1000 genomes]
rs11732389	0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11942739	0.86[ASN][1000 genomes]
rs12646620	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12646621	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13103361	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13435015	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs17742611	0.84[JPT][hapmap]
rs2301820	0.84[JPT][hapmap]
rs28392702	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28463777	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28523495	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28601619	0.85[ASN][1000 genomes]
rs28703753	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34760356	0.86[ASN][1000 genomes]
rs35296019	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35490604	0.81[ASN][1000 genomes]
rs3892145	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs41516949	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs4234790	0.81[ASN][1000 genomes]
rs4290891	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4315786	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4346651	0.94[JPT][hapmap]
rs4432749	0.83[JPT][hapmap]
rs4484301	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4513567	0.81[ASN][1000 genomes]
rs4689055	0.82[ASN][1000 genomes]
rs4689558	0.89[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs4689562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6446550	0.84[ASN][1000 genomes]
rs6446551	0.84[ASN][1000 genomes]
rs6446552	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6446553	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs6831368	0.94[JPT][hapmap]
rs6834007	0.80[ASN][1000 genomes]
rs6848114	1.00[JPT][hapmap]
rs6852468	0.92[ASN][1000 genomes]
rs7657702	0.85[ASN][1000 genomes]
rs7668186	0.81[ASN][1000 genomes]
rs7668673	0.88[JPT][hapmap]
rs7689337	0.84[ASN][1000 genomes]
rs9291121	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9291122	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9291123	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9790586	0.94[JPT][hapmap]
rs9999127	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3400936	chr4:6925101-6927799	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6919000-6928000	Weak transcription	Fetal Kidney	kidney
2	chr4:6919600-6942200	Weak transcription	Hela-S3	cervix
3	chr4:6920200-6927600	Weak transcription	Right Atrium	heart
4	chr4:6920200-6939600	Weak transcription	HUVEC	blood vessel
5	chr4:6920400-6928600	Weak transcription	Psoas Muscle	Psoas
6	chr4:6920400-6931000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:6922400-6927400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:6923200-6930800	Weak transcription	Stomach Mucosa	stomach
9	chr4:6923800-6927000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:6923800-6927200	Strong transcription	Thymus	Thymus
11	chr4:6924200-6927000	Strong transcription	Primary T cells from cord blood	blood
12	chr4:6924200-6927800	Strong transcription	Fetal Intestine Small	intestine
13	chr4:6924400-6927200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:6924400-6930600	Weak transcription	Fetal Brain Male	brain
15	chr4:6924600-6927000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr4:6924600-6928600	Weak transcription	Osteobl	bone
17	chr4:6924600-6929000	Strong transcription	Fetal Stomach	stomach
18	chr4:6924800-6928000	Genic enhancers	Primary T cells fromperipheralblood	blood
19	chr4:6924800-6928200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:6924800-6928400	Strong transcription	Stomach Smooth Muscle	stomach
21	chr4:6925000-6926800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:6925000-6927000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:6925000-6927200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:6925000-6927200	Strong transcription	GM12878-XiMat	blood
25	chr4:6925000-6927600	Genic enhancers	Brain Anterior Caudate	brain
26	chr4:6925000-6927600	Strong transcription	Colonic Mucosa	Colon
27	chr4:6925000-6928000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:6925000-6928000	Strong transcription	Dnd41	blood
29	chr4:6925000-6928800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:6925200-6926800	Genic enhancers	Adipose Nuclei	Adipose
31	chr4:6925200-6926800	Strong transcription	Small Intestine	intestine
32	chr4:6925200-6927000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:6925200-6927000	Strong transcription	Ovary	ovary
34	chr4:6925200-6927200	Strong transcription	Fetal Muscle Leg	muscle
35	chr4:6925200-6927400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr4:6925200-6927400	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:6925200-6927400	Strong transcription	Brain Germinal Matrix	brain
38	chr4:6925200-6927400	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr4:6925200-6927600	Strong transcription	Colon Smooth Muscle	Colon
40	chr4:6925200-6927600	Genic enhancers	Right Ventricle	heart
41	chr4:6925200-6927800	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr4:6925200-6927800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:6925200-6927800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:6925200-6927800	Strong transcription	Gastric	stomach
45	chr4:6925200-6927800	Strong transcription	Lung	lung
46	chr4:6925200-6928000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:6925200-6928000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:6925200-6928000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:6925200-6928000	Strong transcription	Aorta	Aorta
50	chr4:6925200-6928000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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