Variant report

Variant	rs73183192
Chromosome Location	chr2:11883639-11883640
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	NR2F2	chr2:11883634-11885680	K562	blood:	n/a	n/a
2	RCOR1	chr2:11882940-11885622	K562	blood:	n/a	n/a
3	CTCF	chr2:11883295-11885691	A549	lung:	n/a	chr2:11883633-11883646 chr2:11883630-11883643 chr2:11883635-11883645
4	CHD2	chr2:11883460-11883653	HepG2	liver:	n/a	n/a
5	CTCF	chr2:11883620-11883770	A549	lung:	n/a	chr2:11883633-11883646 chr2:11883630-11883643 chr2:11883635-11883645
6	CTCF	chr2:11883600-11883750	GM12864	blood:	n/a	chr2:11883633-11883646 chr2:11883630-11883643 chr2:11883635-11883645
7	MAX	chr2:11882665-11883923	HepG2	liver:	n/a	chr2:11882967-11882977
8	ELF1	chr2:11883368-11884038	GM12878	blood:	n/a	n/a
9	CTCF	chr2:11883418-11883675	HepG2	liver:	n/a	chr2:11883633-11883646 chr2:11883630-11883643 chr2:11883635-11883645
10	POLR2A	chr2:11883176-11885464	K562	blood:	n/a	n/a
11	JUND	chr2:11883498-11885610	SK-N-SH	brain:	n/a	chr2:11884384-11884396 chr2:11884385-11884395 chr2:11884385-11884395 chr2:11884386-11884394 chr2:11883863-11883874 chr2:11884384-11884395 chr2:11884385-11884395
12	JUN	chr2:11882263-11884893	K562	blood:	n/a	chr2:11884384-11884396 chr2:11884385-11884395 chr2:11882641-11882652 chr2:11884385-11884395 chr2:11884386-11884394 chr2:11882644-11882655 chr2:11882643-11882651 chr2:11883863-11883874 chr2:11882641-11882653 chr2:11884385-11884395
13	RAD21	chr2:11883135-11888795	SK-N-SH	brain:	n/a	chr2:11888754-11888767 chr2:11883562-11883572 chr2:11883630-11883644
14	SMC3	chr2:11883257-11885766	SK-N-SH	brain:	n/a	chr2:11883632-11883646

No.	Distal block	Cell Line	Cell type
1	chr2:11881178..11885762-chr2:11886043..11889477,7	MCF-7	breast:
2	chr2:11882438..11884776-chr2:11910789..11914613,4	K562	blood:
3	chr2:11882508..11884186-chr2:11887506..11889026,2	MCF-7	breast:
4	chr2:11604833..11608003-chr2:11882353..11886330,4	K562	blood:
5	chr2:11882411..11885202-chr2:11902345..11904670,2	K562	blood:

Variant related genes	Relation type
LPIN1	TF binding region
ENSG00000169016	Chromatin interaction
ENSG00000134324	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73183110	1.00[AMR][1000 genomes]
rs73183196	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs893348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
4	nsv580973	chr2:11864946-11898931	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv580974	chr2:11867841-11898931	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11879000-11883800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:11879200-11883800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:11879200-11883800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:11879200-11883800	Weak transcription	Fetal Lung	lung
5	chr2:11879200-11883800	Weak transcription	Right Ventricle	heart
6	chr2:11879200-11884000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:11879200-11884400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:11879400-11883800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:11879400-11883800	Weak transcription	Brain Anterior Caudate	brain
10	chr2:11879400-11883800	Weak transcription	Left Ventricle	heart
11	chr2:11879400-11884000	Weak transcription	Adipose Nuclei	Adipose
12	chr2:11879600-11883800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr2:11879600-11884000	Weak transcription	Osteobl	bone
14	chr2:11879800-11883800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:11879800-11883800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:11879800-11884400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:11880000-11883800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:11881600-11884800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:11882000-11884200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:11882000-11884400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:11882200-11884200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:11882200-11884200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:11882200-11884400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:11882200-11884400	Enhancers	Hela-S3	cervix
25	chr2:11882200-11884400	Enhancers	HMEC	breast
26	chr2:11882200-11884400	Enhancers	NHLF	lung
27	chr2:11882400-11884000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:11882400-11884400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:11882400-11884400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:11882400-11884400	Enhancers	HUVEC	blood vessel
31	chr2:11882400-11886200	Enhancers	NHDF-Ad	bronchial
32	chr2:11882600-11883800	Enhancers	A549	lung
33	chr2:11882600-11885400	Flanking Bivalent TSS/Enh	HepG2	liver
34	chr2:11882600-11886800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:11882800-11885200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr2:11882800-11885400	Enhancers	Pancreas	Pancrea
37	chr2:11882800-11886000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:11882800-11886200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr2:11882800-11886400	Enhancers	Fetal Thymus	thymus
40	chr2:11882800-11886600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:11883000-11883800	Enhancers	Psoas Muscle	Psoas
42	chr2:11883000-11884000	Enhancers	Gastric	stomach
43	chr2:11883000-11885200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr2:11883000-11885200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:11883000-11885200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:11883000-11885600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:11883000-11886200	Enhancers	Fetal Muscle Leg	muscle
48	chr2:11883200-11883800	Weak transcription	NH-A	brain
49	chr2:11883200-11884000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:11883200-11884000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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