Variant report

Variant	rs73183200
Chromosome Location	chr2:11887051-11887052
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	chr2:11886456-11887536	K562	blood:	n/a	n/a
2	MAX	chr2:11884708-11887762	HepG2	liver:	n/a	chr2:11886898-11886908 chr2:11886778-11886787
3	POLR2A	chr2:11886620-11891581	GM12878	blood:	n/a	n/a
4	CHD2	chr2:11886943-11887325	K562	blood:	n/a	n/a
5	ZBTB7A	chr2:11886618-11887341	ECC-1	luminal epithelium:	n/a	n/a
6	CTCF	chr2:11886940-11887090	GM12865	blood:	n/a	n/a
7	POLR2A	chr2:11886605-11887578	K562	blood:	n/a	n/a
8	POLR2A	chr2:11886572-11887088	K562	blood:	n/a	n/a
9	CHD2	chr2:11886439-11887495	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr2:11886607-11887364	Raji	blood:	n/a	n/a
11	ELF1	chr2:11886103-11887523	GM12878	blood:	n/a	chr2:11886833-11886845 chr2:11886742-11886751
12	CHD2	chr2:11886459-11887339	GM12878	blood:	n/a	n/a
13	MAX	chr2:11886355-11887595	K562	blood:	n/a	chr2:11886898-11886908 chr2:11886778-11886787
14	EP300	chr2:11886332-11887720	SK-N-SH	brain:	n/a	chr2:11887150-11887166 chr2:11886742-11886751
15	MXI1	chr2:11886239-11888165	IMR90	lung:	n/a	n/a
16	POLR2A	chr2:11886456-11887682	K562	blood:	n/a	n/a
17	POLR2A	chr2:11886513-11887081	PFSK-1	brain:	n/a	n/a
18	MAX	chr2:11886448-11887591	SK-N-SH	brain:	n/a	chr2:11886898-11886908 chr2:11886778-11886787
19	CCNT2	chr2:11886434-11887437	K562	blood:	n/a	chr2:11886562-11886571
20	TCF7L2	chr2:11885779-11887411	HEK293	kidney:	n/a	n/a
21	POLR2A	chr2:11886452-11887223	GM18951	blood:	n/a	n/a
22	POLR2A	chr2:11886622-11887441	GM19193	blood:	n/a	n/a
23	MYC	chr2:11886483-11887517	A549	lung:	n/a	chr2:11886898-11886908 chr2:11886778-11886787
24	CHD2	chr2:11887041-11887424	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr2:11886428-11887478	K562	blood:	n/a	chr2:11886898-11886908 chr2:11886778-11886787
26	MXI1	chr2:11886467-11887542	Hela-S3	cervix:	n/a	n/a
27	REST	chr2:11886679-11887084	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr2:11886432-11887080	HepG2	liver:	n/a	n/a
29	TEAD4	chr2:11886442-11887061	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr2:11886473-11888191	GM18505	blood:	n/a	n/a
31	POLR2A	chr2:11886430-11887075	U87	brain:	n/a	n/a
32	HDAC2	chr2:11886365-11887494	HepG2	liver:	n/a	chr2:11886423-11886431 chr2:11886529-11886543 chr2:11887222-11887236
33	MXI1	chr2:11886378-11887515	HepG2	liver:	n/a	n/a
34	TCF7L2	chr2:11886479-11887482	HCT-116	colon:	n/a	n/a
35	POLR2A	chr2:11886442-11887063	K562	blood:	n/a	n/a
36	SIN3A	chr2:11886214-11887595	H1-hESC	embryonic stem cell:	n/a	chr2:11887129-11887143
37	NR2F2	chr2:11886998-11887661	MCF-7	breast:	n/a	n/a
38	MXI1	chr2:11885917-11888799	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr2:11886595-11887823	Hela-S3	cervix:	n/a	n/a
40	E2F6	chr2:11886678-11887496	H1-hESC	embryonic stem cell:	n/a	chr2:11886745-11886754 chr2:11886982-11886994 chr2:11886743-11886753 chr2:11886982-11886991
41	TCF12	chr2:11886167-11887768	A549	lung:	n/a	chr2:11886616-11886626
42	CHD1	chr2:11886999-11887199	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr2:11886587-11887082	MCF-7	breast:	n/a	n/a
44	MAX	chr2:11886480-11887512	Hela-S3	cervix:	n/a	chr2:11886898-11886908 chr2:11886778-11886787
45	RCOR1	chr2:11886370-11887273	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:11886643-11887168	NB4	blood:	n/a	n/a
47	POLR2A	chr2:11886574-11887163	GM10847	blood:	n/a	n/a
48	ZBTB7A	chr2:11886684-11887191	K562	blood:	n/a	n/a
49	MAX	chr2:11886476-11887083	A549	lung:	n/a	chr2:11886898-11886908 chr2:11886778-11886787
50	RFX5	chr2:11886975-11887592	HepG2	liver:	n/a	chr2:11887309-11887324

No.	Distal block	Cell Line	Cell type
1	chr2:11604255..11606398-chr2:11886112..11888104,2	K562	blood:
2	chr2:11886833..11889158-chr2:11909295..11910808,2	K562	blood:
3	chr2:11881178..11885762-chr2:11886043..11889477,7	MCF-7	breast:
4	chr2:10259345..10261058-chr2:11886635..11888299,2	K562	blood:
5	chr2:11885343..11888558-chr2:11916972..11921085,4	K562	blood:
6	chr2:11678361..11681033-chr2:11884649..11887386,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230790	TF binding region
ENSG00000169016	Chromatin interaction
ENSG00000196208	Chromatin interaction
ENSG00000230790	Chromatin interaction
ENSG00000134324	Chromatin interaction
ENSG00000264010	Chromatin interaction
ENSG00000272524	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs58914318	1.00[EUR][1000 genomes]
rs6755991	1.00[EUR][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11886000-11887400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr2:11886000-11887400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr2:11886000-11888000	Active TSS	Brain Germinal Matrix	brain
4	chr2:11886200-11887400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:11886200-11887400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr2:11886200-11887400	Active TSS	Fetal Kidney	kidney
7	chr2:11886200-11887800	Active TSS	HSMM	muscle
8	chr2:11886200-11888400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr2:11886200-11888600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr2:11886400-11887200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:11886400-11887400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:11886400-11887400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr2:11886400-11887400	Active TSS	Colonic Mucosa	Colon
14	chr2:11886400-11887400	Active TSS	Fetal Brain Female	brain
15	chr2:11886400-11887600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:11886400-11887600	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr2:11886400-11887800	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr2:11886400-11888000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:11886400-11888000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:11886400-11888000	Active TSS	HSMMtube	muscle
21	chr2:11886600-11887200	Active TSS	H1 Cell Line	embryonic stem cell
22	chr2:11886600-11887200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:11886600-11887200	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr2:11886600-11887200	Active TSS	Primary monocytes fromperipheralblood	blood
25	chr2:11886600-11887200	Active TSS	Primary T cells fromperipheralblood	blood
26	chr2:11886600-11887200	Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr2:11886600-11887200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr2:11886600-11887200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:11886600-11887200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:11886600-11887200	Active TSS	Muscle Satellite Cultured Cells	--
31	chr2:11886600-11887200	Active TSS	Adipose Nuclei	Adipose
32	chr2:11886600-11887200	Active TSS	Liver	Liver
33	chr2:11886600-11887200	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr2:11886600-11887200	Active TSS	Duodenum Mucosa	Duodenum
35	chr2:11886600-11887200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr2:11886600-11887200	Weak transcription	Fetal Brain Male	brain
37	chr2:11886600-11887200	Active TSS	Fetal Lung	lung
38	chr2:11886600-11887200	Active TSS	Fetal Muscle Trunk	muscle
39	chr2:11886600-11887200	Active TSS	Fetal Muscle Leg	muscle
40	chr2:11886600-11887200	Active TSS	Fetal Thymus	thymus
41	chr2:11886600-11887200	Active TSS	Pancreas	Pancrea
42	chr2:11886600-11887200	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr2:11886600-11887200	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr2:11886600-11887200	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr2:11886600-11887200	Active TSS	Stomach Smooth Muscle	stomach
46	chr2:11886600-11887200	Active TSS	Dnd41	blood
47	chr2:11886600-11887200	Active TSS	NH-A	brain
48	chr2:11886600-11887400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:11886600-11887400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:11886600-11887400	Active TSS	HUES48 Cell Line	embryonic stem cell

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