Variant report

Variant	rs73155410
Chromosome Location	chr5:98265355-98265356
allele	C/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	POLR2A	chr5:98263639-98265621	HEK293	kidney:	n/a	n/a
2	FOXA1	chr5:98265174-98265544	T-47D	breast:	n/a	n/a
3	STAT1	chr5:98263562-98265931	Hela-S3	cervix:	n/a	chr5:98264812-98264824 chr5:98264209-98264221 chr5:98264684-98264696 chr5:98264816-98264828 chr5:98263883-98263895
4	JUND	chr5:98263604-98266054	K562	blood:	n/a	chr5:98264819-98264828 chr5:98264814-98264823 chr5:98264709-98264718 chr5:98264752-98264761 chr5:98263844-98263853 chr5:98263774-98263783 chr5:98264219-98264228 chr5:98264818-98264827
5	TBL1XR1	chr5:98264387-98266187	K562	blood:	n/a	n/a
6	HDAC2	chr5:98265191-98265661	MCF-7	breast:	n/a	n/a
7	RELA	chr5:98264123-98265685	GM18951	blood:	n/a	n/a
8	POLR2A	chr5:98263028-98265628	Raji	blood:	n/a	n/a
9	POLR2A	chr5:98264402-98265514	HepG2	liver:	n/a	n/a
10	HNF4G	chr5:98264764-98265404	HepG2	liver:	n/a	chr5:98265281-98265303
11	TAF1	chr5:98264247-98265633	SK-N-SH	brain:	n/a	n/a
12	E2F4	chr5:98264300-98265664	MCF10A-Er-Src	breast:	n/a	chr5:98264754-98264765 chr5:98264753-98264765 chr5:98265228-98265238 chr5:98264836-98264845
13	REST	chr5:98264420-98265484	A549	lung:	n/a	n/a
14	MAZ	chr5:98262858-98265677	K562	blood:	n/a	chr5:98263904-98263911 chr5:98264544-98264554 chr5:98263903-98263912 chr5:98264754-98264764 chr5:98263849-98263859 chr5:98263901-98263916
15	MXI1	chr5:98262891-98265927	GM12878	blood:	n/a	n/a
16	MAX	chr5:98263606-98265737	Hela-S3	cervix:	n/a	chr5:98263904-98263911 chr5:98264544-98264554 chr5:98263903-98263912 chr5:98264754-98264764 chr5:98263849-98263859 chr5:98263901-98263916
17	MYC	chr5:98265084-98265392	MCF-7	breast:	n/a	n/a
18	POLR2A	chr5:98263634-98265573	HUVEC	blood vessel:	n/a	n/a
19	SPI1	chr5:98265296-98265570	HL-60	blood:	n/a	n/a
20	POLR2A	chr5:98262735-98265849	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr5:98263793-98265554	HepG2	liver:	n/a	n/a
22	STAT3	chr5:98264526-98265624	MCF10A-Er-Src	breast:	n/a	chr5:98264812-98264824 chr5:98264690-98264701 chr5:98264684-98264696 chr5:98264816-98264828
23	POLR2A	chr5:98262939-98265984	GM19193	blood:	n/a	n/a
24	NR2F2	chr5:98264767-98265618	K562	blood:	n/a	n/a
25	POLR2A	chr5:98264252-98265628	HUVEC	blood vessel:	n/a	n/a
26	CREB1	chr5:98264205-98265697	K562	blood:	n/a	n/a
27	FOS	chr5:98265112-98265648	MCF10A-Er-Src	breast:	n/a	n/a
28	MAX	chr5:98264412-98265502	A549	lung:	n/a	chr5:98264544-98264554 chr5:98264754-98264764
29	EP300	chr5:98264465-98265549	HepG2	liver:	n/a	chr5:98265351-98265367 chr5:98264562-98264578 chr5:98264808-98264824
30	ELF1	chr5:98263781-98265592	GM12878	blood:	n/a	chr5:98264044-98264056 chr5:98265478-98265490 chr5:98264808-98264820
31	POLR2A	chr5:98264806-98265515	A549	lung:	n/a	n/a
32	BATF	chr5:98265083-98265535	GM12878	blood:	n/a	n/a
33	FOXP2	chr5:98265335-98265502	SK-N-MC	brain:	n/a	n/a
34	YY1	chr5:98263759-98265562	K562	blood:	n/a	chr5:98264225-98264234 chr5:98263876-98263885 chr5:98264818-98264827 chr5:98263874-98263888 chr5:98264222-98264231 chr5:98265092-98265103 chr5:98264816-98264827 chr5:98264567-98264578 chr5:98264219-98264230
35	CEBPB	chr5:98264591-98265673	HepG2	liver:	n/a	chr5:98265043-98265052 chr5:98265043-98265052 chr5:98265043-98265052 chr5:98265043-98265052
36	TAL1	chr5:98264165-98265632	K562	blood:	n/a	chr5:98264556-98264574
37	PAX5	chr5:98265120-98265438	GM12878	blood:	n/a	chr5:98265301-98265320
38	POLR2A	chr5:98262882-98265836	GM12891	blood:	n/a	n/a
39	EP300	chr5:98264650-98265765	GM12878	blood:	n/a	chr5:98265351-98265367 chr5:98264808-98264824
40	JUN	chr5:98264501-98265627	K562	blood:	n/a	chr5:98264819-98264828 chr5:98264814-98264823 chr5:98264709-98264718 chr5:98264752-98264761 chr5:98264818-98264827
41	TBP	chr5:98264381-98265697	HepG2	liver:	n/a	n/a
42	MYBL2	chr5:98264406-98265486	HepG2	liver:	n/a	n/a
43	POLR2A	chr5:98264398-98266312	A549	lung:	n/a	n/a
44	RELA	chr5:98264104-98265602	GM19099	blood:	n/a	n/a
45	POLR2A	chr5:98262881-98266666	HepG2	liver:	n/a	n/a
46	IRF1	chr5:98264468-98265733	K562	blood:	n/a	chr5:98265706-98265722 chr5:98264809-98264823
47	EGR1	chr5:98264393-98265533	ECC-1	luminal epithelium:	n/a	chr5:98264836-98264845 chr5:98265424-98265438 chr5:98264835-98264844 chr5:98264818-98264828 chr5:98265225-98265238 chr5:98265480-98265490 chr5:98264819-98264832 chr5:98265424-98265435 chr5:98265087-98265100 chr5:98264709-98264719 chr5:98264721-98264730 chr5:98264509-98264523 chr5:98265324-98265348 chr5:98264541-98264555
48	MAX	chr5:98262962-98265658	NB4	blood:	n/a	chr5:98263904-98263911 chr5:98264544-98264554 chr5:98263903-98263912 chr5:98264754-98264764 chr5:98263849-98263859 chr5:98263901-98263916
49	CREB1	chr5:98264348-98265580	HepG2	liver:	n/a	n/a
50	JUND	chr5:98264431-98265762	H1-hESC	embryonic stem cell:	n/a	chr5:98264819-98264828 chr5:98264814-98264823 chr5:98264709-98264718 chr5:98264752-98264761 chr5:98264818-98264827

No.	Distal block	Cell Line	Cell type
1	chr5:98262437..98267686-chr5:98287585..98292205,9	K562	blood:
2	chr5:98220770..98224200-chr5:98262773..98266161,4	K562	blood:
3	chr5:90674940..90679357-chr5:98262514..98267275,7	K562	blood:
4	chr5:98265288..98267597-chr5:98314726..98317352,2	K562	blood:
5	chr2:101178932..101179770-chr5:98264779..98265361,2	Hela-S3	cervix:
6	chr5:98261995..98270397-chr5:98280624..98292060,15	K562	blood:
7	chr5:98265097..98266791-chr5:98309384..98311683,2	K562	blood:
8	chr5:96142600..96144164-chr5:98264927..98267832,2	K562	blood:
9	chr5:98220809..98224769-chr5:98261722..98266325,5	K562	blood:
10	chr5:90677652..90679304-chr5:98264702..98267275,2	K562	blood:
11	chr5:98261788..98268544-chr5:98272174..98280784,17	MCF-7	breast:
12	chr15:66161572..66162153-chr5:98264617..98265384,2	Hela-S3	cervix:
13	chr5:90674940..90677586-chr5:98263946..98266440,2	K562	blood:
14	chr15:65596967..65597783-chr5:98264735..98265685,3	Hela-S3	cervix:
15	chr5:98264846..98265427-chr6:26056184..26056952,2	Hela-S3	cervix:
16	chr5:98265027..98268409-chr5:98365166..98367986,4	K562	blood:
17	chr5:98264671..98265572-chrX:153236815..153237803,2	Hela-S3	cervix:
18	chr5:98264902..98266916-chr5:98381565..98384690,3	K562	blood:
19	chr5:98204205..98207501-chr5:98263457..98266267,3	MCF-7	breast:
20	chr17:46985561..46986168-chr5:98264688..98265508,2	Hela-S3	cervix:
21	chr5:43483467..43484074-chr5:98264949..98265508,2	Hela-S3	cervix:
22	chr13:107219962..107220504-chr5:98264951..98265593,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGMB-1	chr5:98264838-98266713	NONHSAT102967
2	lnc-RGMB-1	chr5:98264861-98270036	NONHSAT102968
3	lnc-RGMB-1	chr5:98264925-98265427	NONHSAT102971

Variant related genes	Relation type
CHD1	TF binding region
ENSG00000164307	Chromatin interaction
ENSG00000200351	Chromatin interaction
ENSG00000113369	Chromatin interaction
ENSG00000172534	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000115539	Chromatin interaction
ENSG00000134884	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000241597	Chromatin interaction
ENSG00000103769	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000177854	Chromatin interaction
ENSG00000153922	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000159202	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10515285	0.87[AFR][1000 genomes]
rs17166461	0.89[AFR][1000 genomes]
rs17166471	0.81[AFR][1000 genomes]
rs57249217	0.81[AFR][1000 genomes]
rs58477983	0.83[AFR][1000 genomes]
rs60298381	0.87[AFR][1000 genomes]
rs6864720	0.91[AFR][1000 genomes]
rs73153574	0.83[AFR][1000 genomes]
rs73153600	0.91[AFR][1000 genomes]
rs73155434	0.85[AFR][1000 genomes]
rs73157426	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882415	chr5:98134186-98312447	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv882416	chr5:98146106-98312447	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv537818	chr5:98241627-98279192	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv537819	chr5:98253348-98299646	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv3405878	chr5:98263077-98265925	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	esv3346760	chr5:98263202-98265950	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr5:98261200-98266000	Active TSS	Thymus	Thymus
2	chr5:98261600-98265800	Active TSS	GM12878-XiMat	blood
3	chr5:98261600-98266200	Active TSS	Fetal Thymus	thymus
4	chr5:98261800-98266200	Active TSS	K562	blood
5	chr5:98262000-98266000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:98262000-98266000	Active TSS	A549	lung
7	chr5:98262200-98265600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr5:98262200-98265800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:98262200-98265800	Active TSS	HMEC	breast
10	chr5:98262200-98266000	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr5:98262400-98265800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:98262400-98266000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr5:98262400-98266000	Active TSS	H1 Cell Line	embryonic stem cell
14	chr5:98262400-98266000	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr5:98262400-98266000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:98262400-98266200	Active TSS	Right Ventricle	heart
17	chr5:98262600-98265600	Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr5:98262600-98265800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:98262600-98265800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:98262600-98265800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:98262600-98265800	Active TSS	Fetal Intestine Small	intestine
22	chr5:98262600-98266000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:98262600-98266000	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr5:98262600-98266000	Active TSS	Colon Smooth Muscle	Colon
25	chr5:98262600-98266000	Active TSS	Fetal Intestine Large	intestine
26	chr5:98262600-98266000	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr5:98262600-98266000	Active TSS	HSMM	muscle
28	chr5:98262600-98266200	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr5:98262600-98266200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:98262600-98266200	Active TSS	NHLF	lung
31	chr5:98262600-98266400	Active TSS	Psoas Muscle	Psoas
32	chr5:98262600-98266600	Active TSS	Stomach Smooth Muscle	stomach
33	chr5:98262600-98266800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:98262800-98265800	Active TSS	Primary monocytes fromperipheralblood	blood
35	chr5:98262800-98265800	Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr5:98262800-98265800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr5:98262800-98265800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr5:98262800-98265800	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr5:98262800-98265800	Active TSS	Fetal Muscle Trunk	muscle
40	chr5:98262800-98266000	Active TSS	H9 Cell Line	embryonic stem cell
41	chr5:98262800-98266000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:98262800-98266000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:98262800-98266000	Active TSS	Fetal Kidney	kidney
44	chr5:98262800-98266200	Active TSS	Fetal Stomach	stomach
45	chr5:98262800-98266200	Active TSS	HSMMtube	muscle
46	chr5:98262800-98266200	Active TSS	NHDF-Ad	bronchial
47	chr5:98263000-98265400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:98263000-98265400	Active TSS	HepG2	liver
49	chr5:98263000-98265600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:98263000-98265600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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