Variant report

Variant	rs9994364
Chromosome Location	chr4:143765773-143765774
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:143764792..143768376-chr4:144104488..144107848,3	MCF-7	breast:
2	chr4:143392966..143400087-chr4:143764739..143770446,12	MCF-7	breast:
3	chr4:143470482..143472862-chr4:143765653..143767436,2	MCF-7	breast:
4	chr4:143391120..143394953-chr4:143764140..143771077,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170185	Chromatin interaction
ENSG00000109452	Chromatin interaction
ENSG00000250326	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11100754	0.80[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs11100761	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11939835	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11943397	0.83[JPT][hapmap]
rs13112916	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13122287	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13145724	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1372239	0.83[CHB][hapmap]
rs1373036	0.85[CHB][hapmap]
rs1441411	0.83[ASN][1000 genomes]
rs1441417	0.84[ASN][1000 genomes]
rs1441418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1444950	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1899565	0.88[JPT][hapmap]
rs191762	0.81[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap]
rs1992652	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2120158	0.83[JPT][hapmap]
rs2218240	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28416530	0.88[ASN][1000 genomes]
rs4575951	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4690698	0.92[CHB][hapmap]
rs4690699	0.80[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs4690728	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4690730	0.92[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs58445560	0.87[AFR][1000 genomes]
rs60263370	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6537124	0.80[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs6537127	0.91[ASN][1000 genomes]
rs6537130	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6811022	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6813785	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6831204	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6839158	0.84[CEU][hapmap];0.83[ASN][1000 genomes]
rs6846609	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6852570	0.80[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs72615963	0.84[ASN][1000 genomes]
rs72728700	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs72730409	0.84[ASN][1000 genomes]
rs73850583	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7660533	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7668263	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7670139	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7685997	0.87[AFR][1000 genomes];0.86[ASN][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	nsv880174	chr4:143639498-143848024	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143740200-143765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:143760400-143765800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:143761800-143766200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:143764400-143766800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:143764800-143765800	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr4:143764800-143766200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr4:143764800-143768800	Active TSS	Stomach Smooth Muscle	stomach
8	chr4:143765200-143766600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:143765200-143766800	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr4:143765400-143766400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:143765400-143766800	Flanking Active TSS	Dnd41	blood
12	chr4:143765400-143768400	Active TSS	Aorta	Aorta
13	chr4:143765600-143765800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr4:143765600-143765800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:143765600-143765800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:143765600-143765800	Enhancers	Rectal Smooth Muscle	rectum
17	chr4:143765600-143765800	Active TSS	A549	lung
18	chr4:143765600-143766000	Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr4:143765600-143766000	Enhancers	Osteobl	bone
20	chr4:143765600-143766200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:143765600-143766200	Flanking Active TSS	Fetal Heart	heart
22	chr4:143765600-143766400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
23	chr4:143765600-143766600	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr4:143765600-143766600	Enhancers	NHDF-Ad	bronchial
25	chr4:143765600-143767000	Active TSS	Brain Anterior Caudate	brain
26	chr4:143765600-143768000	Active TSS	Right Ventricle	heart
27	chr4:143765600-143768600	Active TSS	Brain Angular Gyrus	brain

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