Variant report

Variant	rs71327101
Chromosome Location	chr3:46933684-46933685
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	MXI1	chr3:46933335-46934705	SK-N-SH	brain:	n/a	n/a
2	MAX	chr3:46933569-46934396	H1-hESC	embryonic stem cell:	n/a	chr3:46933825-46933835
3	BHLHE40	chr3:46933523-46934086	HepG2	liver:	n/a	chr3:46933653-46933666
4	MAX	chr3:46933658-46934023	K562	blood:	n/a	chr3:46933825-46933835
5	MAX	chr3:46933545-46934303	MCF-7	breast:	n/a	chr3:46933825-46933835
6	MAX	chr3:46933541-46934302	A549	lung:	n/a	chr3:46933825-46933835
7	MYC	chr3:46933665-46934286	MCF-7	breast:	n/a	chr3:46933825-46933835
8	MAX	chr3:46933675-46934074	H1-hESC	embryonic stem cell:	n/a	chr3:46933825-46933835
9	SIN3A	chr3:46933666-46934496	H1-hESC	embryonic stem cell:	n/a	chr3:46934386-46934397
10	NFIC	chr3:46933642-46934392	ECC-1	luminal epithelium:	n/a	n/a
11	MAX	chr3:46933503-46934434	H1-hESC	embryonic stem cell:	n/a	chr3:46933825-46933835
12	MAX	chr3:46933457-46934406	ECC-1	luminal epithelium:	n/a	chr3:46933825-46933835
13	MYC	chr3:46933636-46934330	NB4	blood:	n/a	chr3:46933825-46933835
14	CTCF	chr3:46933640-46933790	HUVEC	blood vessel:	n/a	n/a
15	BACH1	chr3:46933604-46934151	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr3:46933464-46934396	A549	lung:	n/a	chr3:46933825-46933835
17	BHLHE40	chr3:46933640-46933993	A549	lung:	n/a	chr3:46933653-46933666
18	E2F6	chr3:46933682-46934340	A549	lung:	n/a	n/a
19	E2F6	chr3:46933611-46934422	H1-hESC	embryonic stem cell:	n/a	n/a
20	TCF12	chr3:46933588-46934399	ECC-1	luminal epithelium:	n/a	n/a
21	BHLHE40	chr3:46933330-46934052	K562	blood:	n/a	chr3:46933653-46933666
22	MXI1	chr3:46933364-46934350	IMR90	lung:	n/a	n/a
23	POLR2A	chr3:46933655-46934095	MCF-7	breast:	n/a	n/a
24	E2F6	chr3:46933521-46934787	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr3:46933637-46934165	SK-N-SH	brain:	n/a	chr3:46933825-46933835
26	MAX	chr3:46933535-46934355	ECC-1	luminal epithelium:	n/a	chr3:46933825-46933835
27	POLR2A	chr3:46931669-46936032	K562	blood:	n/a	n/a
28	MYC	chr3:46933683-46933966	HUVEC	blood vessel:	n/a	chr3:46933825-46933835
29	BHLHE40	chr3:46933586-46934024	GM12878	blood:	n/a	chr3:46933653-46933666
30	MAX	chr3:46933537-46934118	K562	blood:	n/a	chr3:46933825-46933835
31	MAX	chr3:46933643-46934297	NB4	blood:	n/a	chr3:46933825-46933835

No.	Distal block	Cell Line	Cell type
1	chr3:46923987..46927246-chr3:46931255..46933897,4	K562	blood:
2	chr3:46927679..46930570-chr3:46933189..46935656,3	MCF-7	breast:
3	chr3:46923291..46931131-chr3:46931662..46935716,9	K562	blood:
4	chr3:46929163..46931629-chr3:46932279..46935009,2	K562	blood:
5	chr3:46733775..46736386-chr3:46933231..46935509,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268537	TF binding region
PTH1R	TF binding region
ENSG00000160808	Chromatin interaction
ENSG00000160801	Chromatin interaction
ENSG00000268537	Chromatin interaction
ENSG00000178038	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13060505	0.83[AMR][1000 genomes]
rs13093914	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1869873	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35418672	0.84[EUR][1000 genomes]
rs71327102	0.84[EUR][1000 genomes]
rs71328903	0.84[EUR][1000 genomes]
rs936183	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv2757869	chr3:46680452-46972489	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv2759147	chr3:46680452-46972489	Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv915922	chr3:46768104-47009805	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1003979	chr3:46853374-46943854	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv590206	chr3:46873957-46935527	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv876752	chr3:46879831-46967040	Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv876753	chr3:46884552-46957298	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv876754	chr3:46884552-46967040	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46930400-46933800	Enhancers	Spleen	Spleen
2	chr3:46930600-46933800	Bivalent Enhancer	Placenta	Placenta
3	chr3:46932400-46933800	Enhancers	Gastric	stomach
4	chr3:46932600-46933800	Enhancers	Right Atrium	heart
5	chr3:46932800-46933800	Enhancers	Esophagus	oesophagus
6	chr3:46932800-46933800	Bivalent Enhancer	Fetal Stomach	stomach
7	chr3:46933000-46933800	Enhancers	Lung	lung
8	chr3:46933000-46934800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:46933200-46933800	Flanking Active TSS	Brain Angular Gyrus	brain
10	chr3:46933200-46933800	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr3:46933200-46933800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
12	chr3:46933200-46934000	Bivalent Enhancer	Stomach Mucosa	stomach
13	chr3:46933200-46934200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:46933200-46934400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr3:46933200-46934400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
16	chr3:46933400-46933800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
17	chr3:46933400-46933800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr3:46933400-46933800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr3:46933400-46933800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:46933400-46933800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr3:46933400-46933800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
22	chr3:46933400-46934000	Bivalent Enhancer	Fetal Brain Male	brain
23	chr3:46933400-46934000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
24	chr3:46933400-46934000	Flanking Active TSS	Fetal Lung	lung
25	chr3:46933400-46934000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
26	chr3:46933400-46934000	Flanking Bivalent TSS/Enh	HepG2	liver
27	chr3:46933400-46934200	Active TSS	A549	lung
28	chr3:46933400-46934200	Enhancers	NHDF-Ad	bronchial
29	chr3:46933400-46934400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:46933400-46934400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr3:46933400-46934400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr3:46933400-46934400	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr3:46933400-46934400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
34	chr3:46933400-46934600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:46933400-46934600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:46933400-46934600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:46933400-46934600	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr3:46933400-46934600	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr3:46933400-46935000	Flanking Active TSS	Fetal Heart	heart
40	chr3:46933600-46933800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
41	chr3:46933600-46933800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
42	chr3:46933600-46933800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:46933600-46933800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:46933600-46933800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
45	chr3:46933600-46933800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:46933600-46933800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr3:46933600-46933800	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr3:46933600-46933800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
49	chr3:46933600-46933800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr3:46933600-46933800	Flanking Active TSS	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links