Variant report

Variant	rs3094226
Chromosome Location	chr6:31112899-31112900
allele	A/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	POLR2A	chr6:31112783-31112974	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:31107022..31110169-chr6:31112293..31115408,4	K562	blood:
2	chr6:31112475..31116177-chr6:31122128..31126125,5	K562	blood:
3	chr6:31107129..31110169-chr6:31111741..31115408,4	K562	blood:

Variant related genes	Relation type
CCHCR1	TF binding region
ENSG00000204536	Chromatin interaction
ENSG00000238211	Chromatin interaction
ENSG00000204538	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1065461	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs130073	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs130078	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2022084	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2073719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2073721	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2073722	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2073723	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2240059	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2240060	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2240065	0.92[ASN][1000 genomes]
rs2285803	0.93[ASN][1000 genomes]
rs3094192	0.95[EUR][1000 genomes]
rs3094225	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3094227	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3094663	0.93[ASN][1000 genomes]
rs3130450	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3130451	0.80[EUR][1000 genomes]
rs3130452	0.84[EUR][1000 genomes]
rs3130454	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3130464	0.93[ASN][1000 genomes]
rs3130498	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3130499	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3130500	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3130501	0.95[EUR][1000 genomes]
rs3130502	0.93[EUR][1000 genomes]
rs3130503	0.91[ASN][1000 genomes]
rs3130504	0.95[EUR][1000 genomes]
rs3130575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3130928	0.87[EUR][1000 genomes]
rs3130929	0.95[EUR][1000 genomes]
rs3131013	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3132522	0.95[EUR][1000 genomes]
rs3132523	0.93[EUR][1000 genomes]
rs3132524	0.93[EUR][1000 genomes]
rs3132528	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3132535	0.87[AFR][1000 genomes]
rs3132537	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6942331	0.84[ASN][1000 genomes]
rs9263758	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9263804	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1029442	chr6:31006647-31449207	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
7	nsv427750	chr6:31028290-31234581	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv428140	chr6:31028290-31462106	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
9	esv2758042	chr6:31028290-31497106	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
10	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
11	nsv525933	chr6:31081205-31142245	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv884137	chr6:31082361-31129310	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv1019637	chr6:31104401-31354706	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
14	nsv1029569	chr6:31104401-31412740	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
15	nsv538174	chr6:31104401-31412740	Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
16	nsv524061	chr6:31107087-31133943	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31105600-31124400	Weak transcription	Fetal Kidney	kidney
2	chr6:31105600-31124800	Weak transcription	Small Intestine	intestine
3	chr6:31105800-31117000	Weak transcription	Brain Substantia Nigra	brain
4	chr6:31105800-31117200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr6:31105800-31117800	Weak transcription	Primary B cells from cord blood	blood
6	chr6:31105800-31121800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:31105800-31122600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:31105800-31124400	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:31105800-31124800	Weak transcription	Hela-S3	cervix
10	chr6:31105800-31125200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:31106000-31125000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr6:31106000-31125000	Weak transcription	Fetal Brain Male	brain
13	chr6:31106000-31125200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:31107600-31125000	Weak transcription	NHDF-Ad	bronchial
15	chr6:31107800-31117200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:31107800-31125000	Weak transcription	Fetal Heart	heart
17	chr6:31108000-31116200	Weak transcription	Esophagus	oesophagus
18	chr6:31109600-31113800	Strong transcription	Thymus	Thymus
19	chr6:31109800-31113800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:31109800-31113800	Strong transcription	Liver	Liver
21	chr6:31109800-31113800	Strong transcription	Dnd41	blood
22	chr6:31109800-31114400	Strong transcription	Brain Germinal Matrix	brain
23	chr6:31109800-31114800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:31110000-31124600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:31110200-31113000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:31110200-31113400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr6:31110200-31113400	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:31110200-31113400	Strong transcription	Fetal Intestine Large	intestine
29	chr6:31110200-31113800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:31110200-31114000	Strong transcription	Fetal Thymus	thymus
31	chr6:31110200-31114200	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr6:31110200-31114200	Strong transcription	Brain Hippocampus Middle	brain
33	chr6:31110200-31114600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:31110200-31114600	Strong transcription	Brain Anterior Caudate	brain
35	chr6:31110200-31114800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:31110200-31117200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:31110200-31125000	Weak transcription	A549	lung
38	chr6:31110400-31113000	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr6:31110400-31113200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:31110400-31113400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr6:31110400-31113600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr6:31110400-31113600	Strong transcription	Pancreas	Pancrea
43	chr6:31110400-31113800	Strong transcription	Fetal Lung	lung
44	chr6:31110400-31114000	Strong transcription	Primary T cells from cord blood	blood
45	chr6:31110400-31114800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:31110600-31113000	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr6:31110600-31113600	Strong transcription	Brain Cingulate Gyrus	brain
48	chr6:31110600-31117800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr6:31110800-31117000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:31110800-31117800	Weak transcription	HepG2	liver

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