Variant report

Variant	rs2869174
Chromosome Location	chr4:76654668-76654669
allele	C/T
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	POLR2A	chr4:76654582-76654756	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:76648622..76651912-chr4:76653743..76658788,6	MCF-7	breast:
2	chr4:76580718..76583042-chr4:76652874..76655046,2	K562	blood:
3	chr4:76653711..76655536-chr4:76661217..76664166,2	K562	blood:

Variant related genes	Relation type
G3BP2	TF binding region
ENSG00000138768	Chromatin interaction
ENSG00000138757	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10009902	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10010519	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10014281	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10025315	0.83[AMR][1000 genomes]
rs10028884	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10029110	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11097070	0.80[AMR][1000 genomes]
rs11729258	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13118426	0.80[AMR][1000 genomes]
rs13137468	0.80[AMR][1000 genomes]
rs13138717	0.80[AMR][1000 genomes]
rs1553984	0.87[AMR][1000 genomes]
rs1553986	0.80[AMR][1000 genomes]
rs1967495	0.80[AMR][1000 genomes]
rs1967496	0.80[AMR][1000 genomes]
rs226416	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2280095	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs324682	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs324683	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs324685	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs324689	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs324692	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs324695	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs324707	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324708	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324711	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324715	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324716	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324717	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324718	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324721	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324724	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs324725	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs324737	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3796485	0.80[AMR][1000 genomes]
rs3853183	0.87[AMR][1000 genomes]
rs3853184	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3942252	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4349625	0.80[AMR][1000 genomes]
rs436611	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs443952	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4859403	0.80[AMR][1000 genomes]
rs4859545	0.80[AMR][1000 genomes]
rs4859546	0.80[AMR][1000 genomes]
rs4859547	0.80[AMR][1000 genomes]
rs4859548	0.80[AMR][1000 genomes]
rs4859550	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5020591	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6419115	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6531866	0.80[AMR][1000 genomes]
rs6531868	0.80[AMR][1000 genomes]
rs6531889	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6531902	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6531903	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6826858	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6827809	0.81[EUR][1000 genomes]
rs6835819	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6842216	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6855321	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6855960	0.81[EUR][1000 genomes]
rs72651313	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7356270	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7356310	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7657871	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7659408	0.80[AMR][1000 genomes]
rs7662940	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7672378	0.80[AMR][1000 genomes]
rs7674063	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7677150	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7691385	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7691765	0.80[AMR][1000 genomes]
rs7696241	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7698393	0.86[EUR][1000 genomes];0.91[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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76650800-76658600	Weak transcription	Brain Substantia Nigra	brain
2	chr4:76650800-76673400	Weak transcription	Lung	lung
3	chr4:76650800-76675600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:76650800-76675800	Weak transcription	Esophagus	oesophagus
5	chr4:76650800-76737800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:76651000-76655200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:76651200-76657200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:76651200-76660800	Weak transcription	Thymus	Thymus
9	chr4:76651200-76661400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:76651200-76663600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:76651400-76667000	Weak transcription	Gastric	stomach
12	chr4:76651800-76667000	Weak transcription	Primary B cells from cord blood	blood
13	chr4:76652000-76657200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:76652000-76660600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr4:76652000-76673400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:76652000-76675200	Weak transcription	Fetal Thymus	thymus
17	chr4:76652000-76675400	Weak transcription	Placenta	Placenta
18	chr4:76652000-76675600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr4:76652000-76675600	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:76652000-76675600	Weak transcription	Spleen	Spleen
21	chr4:76652000-76696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:76652200-76654800	Weak transcription	HSMMtube	muscle
23	chr4:76652200-76657200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:76652200-76659200	Weak transcription	Fetal Stomach	stomach
25	chr4:76652200-76660400	Weak transcription	Right Ventricle	heart
26	chr4:76652200-76664400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr4:76652200-76670800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr4:76652200-76675600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr4:76652400-76655000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr4:76652400-76660200	Weak transcription	HSMM	muscle
31	chr4:76652400-76660800	Weak transcription	Stomach Mucosa	stomach
32	chr4:76652400-76662000	Weak transcription	Brain Angular Gyrus	brain
33	chr4:76652400-76665600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr4:76652400-76675200	Weak transcription	Fetal Kidney	kidney
35	chr4:76652400-76675600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:76652400-76675800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr4:76652400-76675800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr4:76652400-76725000	Weak transcription	Hela-S3	cervix
39	chr4:76652600-76654800	Weak transcription	Fetal Lung	lung
40	chr4:76652600-76655400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:76652600-76655400	Weak transcription	NH-A	brain
42	chr4:76652600-76663200	Weak transcription	Fetal Intestine Small	intestine
43	chr4:76652600-76670000	Weak transcription	K562	blood
44	chr4:76652600-76675400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr4:76652600-76675600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:76652800-76654800	Weak transcription	Adipose Nuclei	Adipose
47	chr4:76652800-76654800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:76652800-76670000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr4:76652800-76675200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:76652800-76675600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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