Variant report

Variant	rs57547066
Chromosome Location	chr4:129791329-129791330
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129729294..129734540-chr4:129782960..129791658,9	K562	blood:
2	chr4:129784722..129788908-chr4:129789150..129792648,4	K562	blood:

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs17013725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013730	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17013733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013736	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013744	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013765	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013766	1.00[EUR][1000 genomes]
rs17013775	1.00[EUR][1000 genomes]
rs17013777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013779	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013786	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17013787	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013789	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17013807	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17013811	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17013813	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17013815	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17013817	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17013825	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013827	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013835	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013841	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013847	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013848	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013849	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013854	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17013857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013862	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17013866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013872	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17013873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013877	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17013882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17303098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2004378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28635430	1.00[EUR][1000 genomes]
rs57153966	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58296567	1.00[EUR][1000 genomes]
rs58580868	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58593491	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58728331	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58755790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58922070	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58981205	1.00[EUR][1000 genomes]
rs59682469	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60787284	1.00[EUR][1000 genomes]
rs61306978	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61620977	1.00[EUR][1000 genomes]
rs61696721	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6813405	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6827804	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6848234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6850940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6855813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73846991	1.00[EUR][1000 genomes]
rs73850004	1.00[EUR][1000 genomes]
rs7682356	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv517249	chr4:129738328-129927804	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1026938	chr4:129770961-129936205	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1030513	chr4:129770961-129965026	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv870175	chr4:129771718-129937945	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1026772	chr4:129773881-129936205	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv461637	chr4:129774375-129924977	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv595397	chr4:129774375-129924977	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv461638	chr4:129774375-129927804	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv595398	chr4:129774375-129927804	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv1018994	chr4:129775612-129933968	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv4504	chr4:129777368-129803959	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv1034996	chr4:129777825-129905255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv537249	chr4:129777825-129905255	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
15	nsv1022446	chr4:129778025-129905116	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv537250	chr4:129778025-129905116	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv1030296	chr4:129778025-129920680	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
18	nsv537251	chr4:129778025-129920680	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
19	esv2830419	chr4:129785483-129905256	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
20	nsv533785	chr4:129785683-129857992	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129753600-129798600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:129753800-129795000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:129773200-129794000	Strong transcription	K562	blood
4	chr4:129776400-129796200	Strong transcription	Dnd41	blood
5	chr4:129779600-129809800	Weak transcription	Small Intestine	intestine
6	chr4:129779800-129793200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:129783400-129800600	Weak transcription	Fetal Kidney	kidney
8	chr4:129784400-129792000	Weak transcription	Colonic Mucosa	Colon
9	chr4:129784400-129792600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:129784400-129799200	Weak transcription	Fetal Brain Male	brain
11	chr4:129784600-129791400	Weak transcription	Spleen	Spleen
12	chr4:129784600-129792600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:129784600-129794000	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:129784600-129795000	Strong transcription	Primary B cells from cord blood	blood
15	chr4:129784600-129798400	Strong transcription	Fetal Thymus	thymus
16	chr4:129784800-129791400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:129784800-129791400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:129784800-129792000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:129784800-129792000	Strong transcription	NHLF	lung
20	chr4:129784800-129792600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:129784800-129792600	Weak transcription	Psoas Muscle	Psoas
22	chr4:129784800-129792600	Weak transcription	Right Ventricle	heart
23	chr4:129784800-129792800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr4:129784800-129792800	Strong transcription	NH-A	brain
25	chr4:129784800-129794400	Strong transcription	Fetal Muscle Trunk	muscle
26	chr4:129784800-129795200	Strong transcription	Primary T cells from cord blood	blood
27	chr4:129784800-129795400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:129784800-129795800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:129784800-129796800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr4:129784800-129798400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:129785000-129794200	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr4:129785000-129794200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:129785000-129797200	Weak transcription	NHEK	skin
34	chr4:129785000-129798600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:129785200-129791600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:129785200-129795000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:129785200-129795200	Strong transcription	GM12878-XiMat	blood
38	chr4:129785400-129795400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:129785400-129796000	Strong transcription	HSMM	muscle
40	chr4:129785600-129792600	Strong transcription	NHDF-Ad	bronchial
41	chr4:129785600-129793200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:129785600-129794400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr4:129785600-129795200	Strong transcription	Fetal Muscle Leg	muscle
44	chr4:129785800-129794200	Strong transcription	Stomach Smooth Muscle	stomach
45	chr4:129785800-129794400	Strong transcription	Thymus	Thymus
46	chr4:129785800-129795200	Strong transcription	Adipose Nuclei	Adipose
47	chr4:129785800-129795600	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr4:129786000-129792600	Strong transcription	Left Ventricle	heart
49	chr4:129786000-129794400	Strong transcription	Aorta	Aorta
50	chr4:129786000-129795000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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