Variant report

Variant	rs73193371
Chromosome Location	chr4:3370910-3370911
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr4:3370847-3372376	IMR90	lung:	n/a	n/a
2	EGR1	chr4:3370809-3371035	K562	blood:	n/a	chr4:3370915-3370937
3	CTCF	chr4:3370880-3371030	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:3368324..3371112-chr4:3371223..3374209,2	MCF-7	breast:

Variant related genes	Relation type
RGS12	TF binding region
ENSG00000159788	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12640186	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12640526	0.95[ASN][1000 genomes]
rs12640721	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12643903	0.92[ASN][1000 genomes]
rs16844197	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16844201	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073286	0.95[ASN][1000 genomes]
rs2281470	0.92[ASN][1000 genomes]
rs2343799	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2749775	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2749776	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2749779	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2749786	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2857859	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2857860	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3129329	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3129330	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3129331	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3129332	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3129333	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3129336	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58949283	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62274923	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62274924	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193372	0.95[ASN][1000 genomes]
rs881818	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv878456	chr4:3215835-3467519	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv878462	chr4:3311548-3505448	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1007847	chr4:3317904-3527357	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv537001	chr4:3317904-3527357	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv878463	chr4:3363994-3498896	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv3339213	chr4:3368054-3372352	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3363600-3371000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:3365000-3371000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:3366800-3372200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:3367000-3371200	Enhancers	Fetal Brain Male	brain
5	chr4:3367400-3371000	Weak transcription	Fetal Kidney	kidney
6	chr4:3367400-3371400	Enhancers	Fetal Muscle Leg	muscle
7	chr4:3368000-3371400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:3368000-3373800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:3368200-3371200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr4:3368400-3371000	Weak transcription	Ovary	ovary
11	chr4:3368400-3371400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:3368800-3371000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:3368800-3372400	Enhancers	Lung	lung
14	chr4:3368800-3376800	Enhancers	Spleen	Spleen
15	chr4:3369000-3371000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:3369000-3371200	Enhancers	Fetal Heart	heart
17	chr4:3369200-3371000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:3369200-3371000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:3369200-3374800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:3369400-3372800	Weak transcription	HepG2	liver
21	chr4:3369400-3373400	Enhancers	Fetal Stomach	stomach
22	chr4:3369400-3373800	Enhancers	Liver	Liver
23	chr4:3369600-3371600	Enhancers	Fetal Thymus	thymus
24	chr4:3369800-3371200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr4:3369800-3371200	Enhancers	HUVEC	blood vessel
26	chr4:3370000-3371000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr4:3370000-3371000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:3370000-3371000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr4:3370000-3371000	Enhancers	Brain Cingulate Gyrus	brain
30	chr4:3370000-3371000	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr4:3370000-3371000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr4:3370000-3371000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
33	chr4:3370000-3371200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
34	chr4:3370000-3371400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:3370000-3371400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr4:3370000-3371400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:3370000-3371400	Enhancers	Right Ventricle	heart
38	chr4:3370000-3371800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr4:3370000-3372400	Enhancers	Fetal Lung	lung
40	chr4:3370000-3374400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr4:3370200-3371000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr4:3370200-3371400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:3370200-3371600	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr4:3370400-3371000	Enhancers	NHDF-Ad	bronchial
45	chr4:3370400-3371000	Enhancers	NHLF	lung
46	chr4:3370400-3371200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:3370400-3371200	Enhancers	Colon Smooth Muscle	Colon
48	chr4:3370400-3371200	Enhancers	Gastric	stomach
49	chr4:3370400-3371200	Enhancers	Pancreas	Pancrea
50	chr4:3370400-3371400	Enhancers	Thymus	Thymus

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