Variant report

Variant	rs2231320
Chromosome Location	chr13:38923215-38923216
allele	A/C
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	E2F4	chr13:38922884-38924685	MCF10A-Er-Src	breast:	n/a	chr13:38923618-38923627
2	MXI1	chr13:38923118-38924602	GM12878	blood:	n/a	chr13:38923581-38923596 chr13:38924465-38924474 chr13:38924482-38924491
3	POLR2A	chr13:38923020-38924796	HepG2	liver:	n/a	n/a
4	ARID3A	chr13:38923197-38924647	HepG2	liver:	n/a	chr13:38923245-38923261 chr13:38923246-38923262
5	MXI1	chr13:38923153-38924582	HepG2	liver:	n/a	chr13:38923581-38923596 chr13:38924465-38924474 chr13:38924482-38924491
6	MAFK	chr13:38922973-38923584	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr13:38923197-38924792	K562	blood:	n/a	n/a
8	MAZ	chr13:38923107-38924549	Hela-S3	cervix:	n/a	chr13:38923623-38923633
9	EP300	chr13:38923060-38924513	K562	blood:	n/a	chr13:38923540-38923549 chr13:38924064-38924074
10	MAX	chr13:38923171-38924713	GM12878	blood:	n/a	chr13:38923623-38923633
11	FOS	chr13:38922941-38923624	MCF10A-Er-Src	breast:	n/a	chr13:38923006-38923018
12	POLR2A	chr13:38922711-38925551	GM12891	blood:	n/a	n/a
13	WRNIP1	chr13:38923096-38924603	GM12878	blood:	n/a	n/a
14	MAX	chr13:38922922-38924882	NB4	blood:	n/a	chr13:38923623-38923633
15	RCOR1	chr13:38922931-38923370	Hela-S3	cervix:	n/a	n/a
16	MXI1	chr13:38923071-38924644	Hela-S3	cervix:	n/a	chr13:38923581-38923596 chr13:38924465-38924474 chr13:38924482-38924491
17	POLR2A	chr13:38923172-38924510	HEK293	kidney:	n/a	n/a
18	HA-E2F1	chr13:38923095-38924663	MCF-7	breast:	n/a	chr13:38923618-38923627
19	FOS	chr13:38922539-38923889	MCF10A-Er-Src	breast:	n/a	chr13:38923006-38923018
20	MYC	chr13:38923056-38924151	H1-hESC	embryonic stem cell:	n/a	chr13:38923623-38923633
21	POLR2A	chr13:38923102-38924568	K562	blood:	n/a	n/a
22	JUND	chr13:38923174-38923455	H1-hESC	embryonic stem cell:	n/a	n/a
23	MYC	chr13:38923066-38924635	MCF10A-Er-Src	breast:	n/a	chr13:38923623-38923633
24	TBL1XR1	chr13:38922976-38924514	GM12878	blood:	n/a	n/a
25	TBP	chr13:38923151-38924503	K562	blood:	n/a	n/a
26	MTA3	chr13:38923094-38924624	GM12878	blood:	n/a	n/a
27	POLR2A	chr13:38923181-38924699	HUVEC	blood vessel:	n/a	n/a
28	PML	chr13:38923094-38924552	GM12878	blood:	n/a	n/a
29	MAZ	chr13:38922676-38924917	IMR90	lung:	n/a	chr13:38923623-38923633
30	MYC	chr13:38923106-38924661	K562	blood:	n/a	chr13:38923623-38923633
31	POLR2A	chr13:38923170-38924581	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr13:38922481-38924833	MCF10A-Er-Src	breast:	n/a	n/a
33	GTF2F1	chr13:38923215-38924559	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr13:38923009-38924590	Raji	blood:	n/a	n/a
35	POLR2A	chr13:38923200-38924422	SK-N-MC	brain:	n/a	n/a
36	POLR2A	chr13:38922768-38926092	GM12878	blood:	n/a	n/a
37	MYC	chr13:38922975-38924722	MCF10A-Er-Src	breast:	n/a	chr13:38923623-38923633
38	FOS	chr13:38922942-38923254	MCF10A-Er-Src	breast:	n/a	chr13:38923006-38923018
39	POLR2A	chr13:38922875-38924693	U87	brain:	n/a	n/a
40	MAX	chr13:38923070-38924704	Hela-S3	cervix:	n/a	chr13:38923623-38923633
41	POLR2A	chr13:38922491-38925197	MCF10A-Er-Src	breast:	n/a	n/a
42	MXI1	chr13:38922679-38925142	IMR90	lung:	n/a	chr13:38923581-38923596 chr13:38924465-38924474 chr13:38924482-38924491
43	POLR2A	chr13:38922833-38926231	IMR90	lung:	n/a	n/a
44	POLR2A	chr13:38922725-38925073	PBDE	blood:	n/a	n/a
45	POLR2A	chr13:38922922-38924764	GM18505	blood:	n/a	n/a
46	HCFC1	chr13:38922857-38924970	Hela-S3	cervix:	n/a	n/a
47	BRCA1	chr13:38923049-38924098	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr13:38923065-38924159	Hela-S3	cervix:	n/a	n/a
49	BHLHE40	chr13:38922994-38924563	GM12878	blood:	n/a	n/a
50	JUN	chr13:38923031-38923323	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:38923147..38923763-chr4:11748300..11748800,2	Hela-S3	cervix:
2	chr13:38903073..38904879-chr13:38922211..38923976,2	K562	blood:
3	chr13:38921186..38924004-chr13:38924043..38925621,2	MCF-7	breast:

Variant related genes	Relation type
UFM1	TF binding region
ENSG00000120686	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1011484	1.00[ASN][1000 genomes]
rs10507469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10507470	1.00[ASN][1000 genomes]
rs1590952	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17057710	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17057848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17057900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2019516	1.00[ASN][1000 genomes]
rs2173948	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455408	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455413	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481887	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481888	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481892	1.00[ASN][1000 genomes]
rs2485779	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2496468	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56306542	1.00[ASN][1000 genomes]
rs7322186	1.00[ASN][1000 genomes]
rs73460283	1.00[ASN][1000 genomes]
rs74047550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74047551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74047552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74047553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74047554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9532217	1.00[ASN][1000 genomes]
rs9548328	1.00[ASN][1000 genomes]
rs9888482	1.00[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	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv869125	chr13:38550449-39132813	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949406	chr13:38561474-39033484	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv561512	chr13:38881318-38930893	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv900005	chr13:38881318-38932949	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38922400-38925200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr13:38922600-38923400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr13:38922600-38923400	Flanking Active TSS	Dnd41	blood
4	chr13:38922600-38923400	Flanking Active TSS	Osteobl	bone
5	chr13:38922600-38923600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
6	chr13:38922600-38924800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr13:38922600-38925000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr13:38922600-38925000	Active TSS	K562	blood
9	chr13:38922600-38925200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:38922600-38925200	Active TSS	HSMMtube	muscle
11	chr13:38922600-38926000	Active TSS	Right Atrium	heart
12	chr13:38922800-38923400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:38922800-38923400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr13:38922800-38923400	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr13:38922800-38923400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr13:38922800-38923400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr13:38922800-38923400	Flanking Active TSS	Liver	Liver
18	chr13:38922800-38923400	Flanking Active TSS	Fetal Lung	lung
19	chr13:38922800-38923400	Flanking Active TSS	HUVEC	blood vessel
20	chr13:38922800-38923400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr13:38922800-38923600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr13:38922800-38924200	Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr13:38922800-38924400	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr13:38922800-38924400	Active TSS	Thymus	Thymus
25	chr13:38922800-38924600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:38922800-38924600	Active TSS	Brain Cingulate Gyrus	brain
27	chr13:38922800-38924600	Active TSS	Brain Germinal Matrix	brain
28	chr13:38922800-38924600	Active TSS	Brain Substantia Nigra	brain
29	chr13:38922800-38924600	Active TSS	Rectal Smooth Muscle	rectum
30	chr13:38922800-38924600	Active TSS	Stomach Smooth Muscle	stomach
31	chr13:38922800-38924800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr13:38922800-38924800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:38922800-38924800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:38922800-38924800	Active TSS	Muscle Satellite Cultured Cells	--
35	chr13:38922800-38924800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr13:38922800-38924800	Active TSS	Fetal Kidney	kidney
37	chr13:38922800-38924800	Active TSS	Fetal Stomach	stomach
38	chr13:38922800-38925000	Active TSS	H1 Cell Line	embryonic stem cell
39	chr13:38922800-38925000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr13:38922800-38925000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr13:38922800-38925000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr13:38922800-38925000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr13:38922800-38925000	Active TSS	Aorta	Aorta
44	chr13:38922800-38925000	Active TSS	Fetal Intestine Large	intestine
45	chr13:38922800-38925000	Active TSS	GM12878-XiMat	blood
46	chr13:38922800-38925200	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr13:38922800-38925200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr13:38922800-38925200	Active TSS	NHLF	lung
49	chr13:38922800-38926200	Active TSS	Right Ventricle	heart
50	chr13:38923000-38923400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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