Variant report

Variant	rs61854843
Chromosome Location	chr10:58121816-58121817
allele	G/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	chr10:58120501-58122418	GM18505	blood:	n/a	n/a
2	MYC	chr10:58120748-58121824	K562	blood:	n/a	n/a
3	POLR2A	chr10:58120453-58121885	GM12892	blood:	n/a	n/a
4	POLR2A	chr10:58120155-58121896	GM19099	blood:	n/a	n/a
5	GATA3	chr10:58120872-58121877	T-47D	breast:	n/a	n/a
6	JUND	chr10:58120721-58121821	K562	blood:	n/a	n/a
7	MXI1	chr10:58120500-58122080	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr10:58119390-58122767	GM12891	blood:	n/a	n/a
9	POLR2A	chr10:58121646-58121985	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr10:58119187-58121922	GM12878	blood:	n/a	n/a
11	POLR2A	chr10:58120520-58121820	K562	blood:	n/a	n/a
12	POLR2A	chr10:58119354-58122168	K562	blood:	n/a	n/a
13	POLR2A	chr10:58120618-58121887	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr10:58119294-58121931	K562	blood:	n/a	n/a
15	CEBPB	chr10:58120797-58122016	Hela-S3	cervix:	n/a	chr10:58121080-58121088
16	POLR2A	chr10:58120088-58121847	Raji	blood:	n/a	n/a
17	POLR2A	chr10:58121540-58121933	GM12892	blood:	n/a	n/a
18	CEBPB	chr10:58121785-58122036	IMR90	lung:	n/a	n/a
19	POLR2A	chr10:58120654-58122009	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr10:58120464-58122012	HepG2	liver:	n/a	n/a
21	POLR2A	chr10:58120424-58121875	MCF-7	breast:	n/a	n/a
22	CEBPB	chr10:58121796-58122198	K562	blood:	n/a	n/a
23	RCOR1	chr10:58120795-58121988	K562	blood:	n/a	n/a
24	POLR2A	chr10:58120231-58121837	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr10:58120454-58121901	K562	blood:	n/a	n/a
26	MYC	chr10:58120301-58121821	NB4	blood:	n/a	n/a
27	POLR2A	chr10:58120393-58121870	GM18951	blood:	n/a	n/a
28	POLR2A	chr10:58114865-58121889	K562	blood:	n/a	n/a
29	POLR2A	chr10:58120596-58121817	GM15510	blood:	n/a	n/a
30	TCF7L2	chr10:58119887-58121822	Hela-S3	cervix:	n/a	chr10:58121041-58121055 chr10:58121044-58121054
31	GATA2	chr10:58120516-58121899	SH-SY5Y	brain:	n/a	n/a
32	POLR2A	chr10:58121731-58121930	GM12878	blood:	n/a	n/a
33	TBP	chr10:58120491-58121889	K562	blood:	n/a	n/a
34	NRF1	chr10:58120695-58121823	SK-N-SH	brain:	n/a	chr10:58121211-58121222 chr10:58121173-58121184 chr10:58121211-58121222 chr10:58121174-58121185 chr10:58121211-58121225 chr10:58121213-58121222 chr10:58121174-58121188 chr10:58121208-58121222 chr10:58121197-58121208
35	POLR2A	chr10:58120193-58121868	K562	blood:	n/a	n/a
36	POLR2A	chr10:58119003-58122749	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:58121424..58123944-chr10:58126016..58127888,2	MCF-7	breast:
2	chr10:58121092..58124611-chr10:58124835..58127266,3	K562	blood:
3	chr10:58121131..58123400-chr10:58127785..58130133,3	MCF-7	breast:

Variant related genes	Relation type
ZWINT	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10825784	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10825787	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10825798	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10825799	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11005361	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16908708	0.92[EUR][1000 genomes]
rs2393057	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4275538	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6481208	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[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	esv2752691	chr10:57738694-58541894	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831883	chr10:57947759-58139056	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv895503	chr10:58029209-58201703	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv895504	chr10:58029209-58230622	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1035842	chr10:58084841-58150135	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58119800-58122000	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr10:58119800-58122000	Active TSS	NHLF	lung
3	chr10:58120000-58122000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr10:58120000-58122000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr10:58120000-58122000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:58120000-58122000	Active TSS	Fetal Kidney	kidney
7	chr10:58120000-58122000	Active TSS	Rectal Smooth Muscle	rectum
8	chr10:58120000-58122400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:58120000-58122400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr10:58120200-58122000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr10:58120200-58122000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:58120200-58122000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:58120200-58122000	Active TSS	A549	lung
14	chr10:58120200-58122000	Active TSS	NHDF-Ad	bronchial
15	chr10:58120200-58122200	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr10:58120200-58122400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr10:58120200-58122400	Active TSS	GM12878-XiMat	blood
18	chr10:58120200-58122800	Active TSS	K562	blood
19	chr10:58120400-58122000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr10:58120400-58122000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:58120400-58122000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:58120400-58122000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr10:58120400-58122000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr10:58120400-58122000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr10:58120400-58122000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr10:58120400-58122000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr10:58120400-58122000	Active TSS	Brain Substantia Nigra	brain
28	chr10:58120400-58122000	Active TSS	Colonic Mucosa	Colon
29	chr10:58120400-58122000	Active TSS	Fetal Intestine Small	intestine
30	chr10:58120400-58122000	Active TSS	Fetal Lung	lung
31	chr10:58120400-58122000	Active TSS	Placenta Amnion	Placenta Amnion
32	chr10:58120400-58122000	Active TSS	Right Atrium	heart
33	chr10:58120400-58122000	Active TSS	Hela-S3	cervix
34	chr10:58120400-58122000	Active TSS	HSMM	muscle
35	chr10:58120400-58122000	Active TSS	HSMMtube	muscle
36	chr10:58120400-58122400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr10:58120400-58122400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr10:58120400-58122400	Active TSS	HMEC	breast
39	chr10:58120400-58122600	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr10:58120600-58122000	Active TSS	H1 Cell Line	embryonic stem cell
41	chr10:58120600-58122000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:58120600-58122000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr10:58120600-58122000	Active TSS	Muscle Satellite Cultured Cells	--
44	chr10:58120600-58122000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr10:58120600-58122000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr10:58120600-58122000	Active TSS	Brain Germinal Matrix	brain
47	chr10:58120600-58122000	Active TSS	Brain Hippocampus Middle	brain
48	chr10:58120600-58122000	Active TSS	Colon Smooth Muscle	Colon
49	chr10:58120600-58122000	Active TSS	Fetal Heart	heart
50	chr10:58120600-58122000	Active TSS	Left Ventricle	heart

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