Variant report

Variant	rs73012100
Chromosome Location	chr2:168148810-168148811
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	MAX	chr2:168148809-168150359	ECC-1	luminal epithelium:	n/a	chr2:168149920-168149930
2	MAZ	chr2:168148780-168150120	IMR90	lung:	n/a	chr2:168149920-168149930
3	CHD1	chr2:168148448-168150272	IMR90	lung:	n/a	chr2:168149149-168149159 chr2:168149142-168149152
4	CTCF	chr2:168148780-168150935	SK-N-SH	brain:	n/a	chr2:168150000-168150013 chr2:168150670-168150683 chr2:168150003-168150016 chr2:168150581-168150594
5	REST	chr2:168148722-168150445	H1-neurons	neurons:	n/a	chr2:168150408-168150422 chr2:168149579-168149592 chr2:168149874-168149887 chr2:168150292-168150300 chr2:168149579-168149592
6	E2F6	chr2:168148744-168149608	A549	lung:	n/a	chr2:168149476-168149485 chr2:168149553-168149563 chr2:168149344-168149353 chr2:168149142-168149151 chr2:168149559-168149569
7	POLR2A	chr2:168148771-168149609	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr2:168148787-168149675	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr2:168148680-168148830	HEEpiC	esophagus:	n/a	n/a
10	RAD21	chr2:168148790-168149199	SK-N-SH_RA	brain:	n/a	n/a
11	MXI1	chr2:168148220-168151717	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr2:168148700-168148850	HAc	cerebellar:	n/a	n/a
13	ZNF263	chr2:168148796-168150681	HEK293-T-REx	kidney:	n/a	n/a
14	TAF7	chr2:168148771-168149672	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr2:168148735-168149719	PFSK-1	brain:	n/a	n/a
16	HDAC2	chr2:168148787-168149805	MCF-7	breast:	n/a	n/a
17	CTCF	chr2:168148758-168149271	MCF-7	breast:	n/a	n/a
18	MAX	chr2:168148779-168149645	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr2:168148770-168149603	MCF10A-Er-Src	breast:	n/a	n/a
20	RAD21	chr2:168148769-168149864	H1-hESC	embryonic stem cell:	n/a	n/a
21	YY1	chr2:168148744-168149092	SK-N-SH_RA	brain:	n/a	n/a
22	PBX3	chr2:168148755-168149794	SK-N-SH	brain:	n/a	n/a
23	MAX	chr2:168148787-168150226	HepG2	liver:	n/a	chr2:168149920-168149930
24	POLR2A	chr2:168148757-168149939	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr2:168148749-168150009	A549	lung:	n/a	chr2:168149920-168149930
26	MXI1	chr2:168148777-168150348	IMR90	lung:	n/a	n/a
27	TAF1	chr2:168148810-168149749	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr2:168148737-168150346	H1-hESC	embryonic stem cell:	n/a	chr2:168149920-168149930
29	SIN3A	chr2:168148807-168151636	H1-hESC	embryonic stem cell:	n/a	chr2:168150293-168150301 chr2:168149861-168149870
30	CHD1	chr2:168148674-168148976	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr2:168148749-168150135	A549	lung:	n/a	chr2:168149920-168149930
32	POLR2A	chr2:168148637-168149991	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:168144344..168146504-chr2:168147562..168149498,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228222	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10191894	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10200054	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385369	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395423	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13432607	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3749002	1.00[EUR][1000 genomes]
rs57270001	1.00[EUR][1000 genomes]
rs58721716	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58989564	0.85[AFR][1000 genomes]
rs59899923	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60205651	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61733879	1.00[EUR][1000 genomes]
rs73012054	1.00[EUR][1000 genomes]
rs73012057	1.00[EUR][1000 genomes]
rs73012059	1.00[EUR][1000 genomes]
rs73012062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73012070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73012073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73012080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73013905	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015832	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015836	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015837	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015840	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015841	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015843	0.85[AFR][1000 genomes]
rs73015845	0.85[AFR][1000 genomes]
rs73015869	1.00[ASN][1000 genomes]
rs73017746	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73017764	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73029722	1.00[EUR][1000 genomes]
rs73029735	1.00[EUR][1000 genomes]
rs73029741	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875377	chr2:168084857-168203116	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv3412741	chr2:168148456-168151654	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	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	chr2:168148400-168149000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:168148400-168149000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr2:168148400-168150600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:168148600-168149000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:168148600-168149000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:168148600-168149000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
7	chr2:168148600-168149000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr2:168148600-168149000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:168148600-168149000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:168148600-168149000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:168148600-168149000	Flanking Active TSS	Brain Angular Gyrus	brain
12	chr2:168148600-168149000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr2:168148600-168149200	Active TSS	Brain Germinal Matrix	brain
14	chr2:168148600-168149600	Active TSS	Primary hematopoietic stem cells	blood
15	chr2:168148600-168149800	Active TSS	Muscle Satellite Cultured Cells	--
16	chr2:168148600-168149800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:168148600-168149800	Active TSS	Stomach Smooth Muscle	stomach
18	chr2:168148600-168149800	Bivalent/Poised TSS	HUVEC	blood vessel
19	chr2:168148600-168150000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:168148600-168150000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
21	chr2:168148600-168150200	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:168148600-168150200	Active TSS	NH-A	brain
23	chr2:168148600-168150600	Active TSS	Right Atrium	heart
24	chr2:168148600-168150800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr2:168148600-168150800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:168148600-168150800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:168148600-168151600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:168148600-168151600	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr2:168148600-168151800	Active TSS	H1 Cell Line	embryonic stem cell
30	chr2:168148600-168151800	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr2:168148600-168151800	Active TSS	Brain Hippocampus Middle	brain
32	chr2:168148600-168151800	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr2:168148600-168151800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:168148600-168151800	Active TSS	NHLF	lung
35	chr2:168148600-168152000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:168148600-168152000	Active TSS	Brain Anterior Caudate	brain
37	chr2:168148600-168152200	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr2:168148800-168149000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:168148800-168149000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
40	chr2:168148800-168149000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr2:168148800-168149000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr2:168148800-168149000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:168148800-168149000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr2:168148800-168149000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:168148800-168149000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
46	chr2:168148800-168149000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
47	chr2:168148800-168149000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:168148800-168149000	Bivalent Enhancer	Liver	Liver
49	chr2:168148800-168149000	Flanking Active TSS	Colonic Mucosa	Colon
50	chr2:168148800-168149000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum

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