Variant report

Variant	rs36055280
Chromosome Location	chr2:173296850-173296851
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	MAFK	chr2:173296750-173297099	K562	blood:	n/a	chr2:173296913-173296933 chr2:173296912-173296927 chr2:173296915-173296931 chr2:173296917-173296926 chr2:173296916-173296930
2	MAFK	chr2:173296793-173297118	H1-hESC	embryonic stem cell:	n/a	chr2:173296913-173296933 chr2:173296912-173296927 chr2:173296915-173296931 chr2:173296917-173296926 chr2:173296916-173296930
3	MAFK	chr2:173296738-173297105	HepG2	liver:	n/a	chr2:173296913-173296933 chr2:173296912-173296927 chr2:173296915-173296931 chr2:173296917-173296926 chr2:173296916-173296930
4	MAFK	chr2:173296762-173297094	Hela-S3	cervix:	n/a	chr2:173296913-173296933 chr2:173296912-173296927 chr2:173296915-173296931 chr2:173296917-173296926 chr2:173296916-173296930
5	POLR2A	chr2:173296635-173296946	MCF10A-Er-Src	breast:	n/a	n/a
6	MAFK	chr2:173296735-173297109	HepG2	liver:	n/a	chr2:173296913-173296933 chr2:173296912-173296927 chr2:173296915-173296931 chr2:173296917-173296926 chr2:173296916-173296930
7	MAFF	chr2:173296751-173297110	K562	blood:	n/a	chr2:173296916-173296930 chr2:173296910-173296928
8	MAFK	chr2:173296738-173297115	IMR90	lung:	n/a	chr2:173296913-173296933 chr2:173296912-173296927 chr2:173296915-173296931 chr2:173296917-173296926 chr2:173296916-173296930
9	MAFF	chr2:173296735-173297163	HepG2	liver:	n/a	chr2:173296916-173296930 chr2:173296910-173296928

No.	Distal block	Cell Line	Cell type
1	chr2:173291261..173294444-chr2:173294873..173298615,3	K562	blood:
2	chr2:173272055..173273820-chr2:173294658..173297401,2	MCF-7	breast:
3	chr2:173294248..173297165-chr2:173302746..173304421,2	MCF-7	breast:
4	chr2:173291236..173294444-chr2:173296195..173299585,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLX2-9	chr2:173296163-173300407	ucscGeneNc_uc002uht_1

Variant related genes	Relation type
ENSG00000226963	TF binding region
ENSG00000091409	Chromatin interaction
ENSG00000226963	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11685833	0.86[ASN][1000 genomes]
rs11686903	0.86[ASN][1000 genomes]
rs11688498	0.86[ASN][1000 genomes]
rs3115745	1.00[ASN][1000 genomes]
rs62167774	0.86[ASN][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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv875414	chr2:173267081-173307756	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1847874	chr2:173277361-173308318	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv583663	chr2:173287832-173307756	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv583664	chr2:173289239-173307756	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173293400-173297800	Transcr. at gene 5' and 3'	NHEK	skin
2	chr2:173294000-173297600	Weak transcription	Spleen	Spleen
3	chr2:173294000-173301800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr2:173294200-173302600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:173294400-173298000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:173294400-173299200	Weak transcription	Placenta	Placenta
7	chr2:173294400-173301400	Weak transcription	Aorta	Aorta
8	chr2:173294600-173297200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr2:173294600-173297200	Weak transcription	Gastric	stomach
10	chr2:173294600-173298000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:173294600-173302400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:173294600-173302600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:173294600-173302600	Weak transcription	NH-A	brain
14	chr2:173294600-173303000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:173294600-173303400	Weak transcription	NHLF	lung
16	chr2:173294800-173297400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:173294800-173297400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr2:173294800-173297400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:173294800-173297400	Weak transcription	Esophagus	oesophagus
20	chr2:173294800-173297600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:173294800-173298200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:173294800-173298200	Enhancers	HepG2	liver
23	chr2:173294800-173299600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:173294800-173299800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:173294800-173302400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:173294800-173302400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:173294800-173306400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:173294800-173308800	Enhancers	Stomach Mucosa	stomach
29	chr2:173295000-173297200	Weak transcription	Thymus	Thymus
30	chr2:173295000-173298600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:173295000-173299000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr2:173295000-173299400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:173295000-173299400	Enhancers	Primary T cells fromperipheralblood	blood
34	chr2:173295000-173300800	Enhancers	Primary hematopoietic stem cells	blood
35	chr2:173295000-173301200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:173295000-173302200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:173295000-173303800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:173295200-173299400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:173295200-173302600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:173295200-173306600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr2:173295200-173306600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr2:173295400-173297400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:173295400-173298000	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr2:173295400-173298600	Enhancers	Fetal Intestine Small	intestine
45	chr2:173295600-173297000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:173295600-173297200	Enhancers	HUVEC	blood vessel
47	chr2:173295600-173297400	Weak transcription	Lung	lung
48	chr2:173295600-173299400	Enhancers	Brain Hippocampus Middle	brain
49	chr2:173295600-173299800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr2:173295600-173301600	Weak transcription	Placenta Amnion	Placenta Amnion

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