Variant report

Variant	rs73606601
Chromosome Location	chr10:25242197-25242198
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	chr10:25240578-25242391	MCF-7	breast:	n/a	n/a
2	BACH1	chr10:25241844-25242330	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD1	chr10:25241898-25242253	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr10:25241705-25242294	K562	blood:	n/a	n/a
5	JUND	chr10:25241819-25242246	H1-hESC	embryonic stem cell:	n/a	n/a
6	EGR1	chr10:25241579-25242255	H1-hESC	embryonic stem cell:	n/a	chr10:25241695-25241705 chr10:25241841-25241851 chr10:25241694-25241707 chr10:25241715-25241728 chr10:25241803-25241817
7	E2F6	chr10:25240834-25242460	A549	lung:	n/a	chr10:25241284-25241296 chr10:25241518-25241529 chr10:25241751-25241760 chr10:25241720-25241729 chr10:25241517-25241529 chr10:25241842-25241851 chr10:25241284-25241293 chr10:25241831-25241841 chr10:25241535-25241547 chr10:25241803-25241813 chr10:25241536-25241547
8	POLR2A	chr10:25240181-25244662	K562	blood:	n/a	n/a
9	BHLHE40	chr10:25240622-25242272	GM12878	blood:	n/a	chr10:25241832-25241848 chr10:25241803-25241819 chr10:25241723-25241739 chr10:25241792-25241808
10	POLR2A	chr10:25241792-25242226	Hela-S3	cervix:	n/a	n/a
11	IRF1	chr10:25241957-25242732	K562	blood:	n/a	n/a
12	UBTF	chr10:25240562-25242561	K562	blood:	n/a	n/a
13	E2F6	chr10:25240562-25242230	H1-hESC	embryonic stem cell:	n/a	chr10:25241284-25241296 chr10:25241518-25241529 chr10:25241751-25241760 chr10:25241720-25241729 chr10:25241517-25241529 chr10:25241842-25241851 chr10:25241284-25241293 chr10:25241831-25241841 chr10:25241535-25241547 chr10:25241803-25241813 chr10:25241536-25241547
14	MAX	chr10:25241849-25242500	MCF-7	breast:	n/a	n/a
15	MAX	chr10:25240488-25242348	H1-hESC	embryonic stem cell:	n/a	n/a
16	MYC	chr10:25240350-25242595	K562	blood:	n/a	n/a
17	CHD2	chr10:25241080-25242215	Hela-S3	cervix:	n/a	chr10:25241723-25241733 chr10:25241285-25241295
18	RAD21	chr10:25241607-25242389	H1-hESC	embryonic stem cell:	n/a	chr10:25241700-25241710 chr10:25241806-25241819 chr10:25241805-25241817 chr10:25241803-25241822 chr10:25241807-25241817
19	ZNF143	chr10:25240297-25242230	H1-hESC	embryonic stem cell:	n/a	chr10:25240833-25240851 chr10:25241686-25241696
20	POLR2A	chr10:25240291-25242512	K562	blood:	n/a	n/a
21	SIN3A	chr10:25240309-25242360	H1-hESC	embryonic stem cell:	n/a	chr10:25241794-25241807 chr10:25242209-25242218
22	UBTF	chr10:25240600-25242563	K562	blood:	n/a	n/a
23	ZMIZ1	chr10:25240569-25242628	K562	blood:	n/a	n/a
24	MYC	chr10:25240599-25242486	K562	blood:	n/a	n/a
25	POLR2A	chr10:25240175-25242598	H1-hESC	embryonic stem cell:	n/a	n/a
26	SMC3	chr10:25240491-25242275	Hela-S3	cervix:	n/a	chr10:25241807-25241821 chr10:25241807-25241817
27	CHD2	chr10:25240555-25242218	K562	blood:	n/a	chr10:25241723-25241733 chr10:25241285-25241295
28	POLR2A	chr10:25239865-25243383	GM12878	blood:	n/a	n/a
29	CHD2	chr10:25241794-25242338	H1-hESC	embryonic stem cell:	n/a	n/a
30	TCF12	chr10:25240710-25242361	A549	lung:	n/a	n/a
31	MAX	chr10:25241778-25242219	SK-N-SH	brain:	n/a	n/a
32	MAX	chr10:25240386-25242322	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr10:25240570-25242731	GM12878	blood:	n/a	chr10:25241723-25241733 chr10:25241285-25241295
34	GTF2F1	chr10:25241719-25242388	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr10:25240502-25242429	A549	lung:	n/a	n/a
36	POLR2A	chr10:25242189-25242226	GM12878	blood:	n/a	n/a
37	MAZ	chr10:25240241-25242685	K562	blood:	n/a	n/a
38	POLR2A	chr10:25240500-25242273	Hela-S3	cervix:	n/a	n/a
39	MAX	chr10:25240486-25242246	K562	blood:	n/a	n/a
40	BHLHE40	chr10:25240408-25242646	K562	blood:	n/a	chr10:25241832-25241848 chr10:25241803-25241819 chr10:25241723-25241739 chr10:25241792-25241808
41	EGR1	chr10:25241912-25242205	K562	blood:	n/a	n/a
42	POLR2A	chr10:25240464-25242521	H1-hESC	embryonic stem cell:	n/a	n/a
43	E2F6	chr10:25240797-25242205	K562	blood:	n/a	chr10:25241284-25241296 chr10:25241518-25241529 chr10:25241751-25241760 chr10:25241720-25241729 chr10:25241517-25241529 chr10:25241842-25241851 chr10:25241284-25241293 chr10:25241831-25241841 chr10:25241535-25241547 chr10:25241803-25241813 chr10:25241536-25241547
44	RAD21	chr10:25241338-25242354	H1-hESC	embryonic stem cell:	n/a	chr10:25241700-25241710 chr10:25241806-25241819 chr10:25241805-25241817 chr10:25241803-25241822 chr10:25241807-25241817
45	POLR2A	chr10:25240604-25242209	Hela-S3	cervix:	n/a	n/a
46	JUND	chr10:25240363-25242648	K562	blood:	n/a	chr10:25241416-25241425
47	MAX	chr10:25241197-25242291	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr10:25239835-25242202	K562	blood:	n/a	n/a
49	POLR2A	chr10:25240256-25242537	K562	blood:	n/a	n/a
50	CTCF	chr10:25241108-25242626	A549	lung:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820

No.	Distal block	Cell Line	Cell type
1	chr10:25010748..25013945-chr10:25238648..25242767,8	MCF-7	breast:
2	chr10:25010212..25016288-chr10:25239162..25243925,7	K562	blood:
3	chr10:25154526..25157379-chr10:25242039..25244548,2	K562	blood:
4	chr10:25009845..25014059-chr10:25240930..25243462,5	MCF-7	breast:
5	chr10:25009082..25014020-chr10:25238727..25242865,5	K562	blood:
6	chr10:25239628..25245194-chr10:25304841..25307327,7	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-THNSL1-4	chr10:25242170-25242442	ENSG00000273107.1
2	lnc-THNSL1-4	chr10:25241978-25242206	NONHSAT011795

Variant related genes	Relation type
PRTFDC1	TF binding region
ENSG00000228667	Chromatin interaction
ENSG00000151023	Chromatin interaction
ENSG00000185875	Chromatin interaction
ENSG00000107863	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10828735	1.00[ASN][1000 genomes]
rs11014322	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12268848	1.00[EUR][1000 genomes]
rs16925371	1.00[EUR][1000 genomes]
rs1926052	1.00[EUR][1000 genomes]
rs1926054	1.00[EUR][1000 genomes]
rs73606598	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053278	chr10:25140776-25269093	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer 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
2	esv3433843	chr10:25240746-25242744	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25240200-25243000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr10:25240400-25242600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr10:25240400-25242600	Flanking Active TSS	Dnd41	blood
4	chr10:25240600-25242400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:25240600-25242400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr10:25240600-25242400	Active TSS	Rectal Smooth Muscle	rectum
7	chr10:25240600-25242600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr10:25240600-25242600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr10:25240600-25242600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr10:25240800-25242200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr10:25240800-25242200	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr10:25240800-25242200	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr10:25240800-25242200	Active TSS	Fetal Kidney	kidney
14	chr10:25240800-25242200	Active TSS	Fetal Lung	lung
15	chr10:25240800-25242200	Active TSS	Hela-S3	cervix
16	chr10:25240800-25242400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr10:25240800-25242600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr10:25240800-25242600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr10:25241000-25242200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr10:25241000-25242200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:25241000-25242200	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr10:25241000-25242200	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr10:25241000-25242200	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr10:25241000-25242200	Active TSS	Aorta	Aorta
25	chr10:25241000-25242200	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr10:25241000-25242200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr10:25241000-25242200	Active TSS	Fetal Intestine Small	intestine
28	chr10:25241000-25242200	Active TSS	Left Ventricle	heart
29	chr10:25241000-25242200	Active TSS	Lung	lung
30	chr10:25241000-25242200	Active TSS	HSMM	muscle
31	chr10:25241000-25242200	Active TSS	NHEK	skin
32	chr10:25241000-25242400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:25241000-25242400	Active TSS	Ovary	ovary
34	chr10:25241000-25242400	Active TSS	Placenta Amnion	Placenta Amnion
35	chr10:25241000-25242400	Active TSS	Small Intestine	intestine
36	chr10:25241000-25242600	Active TSS	H1 Cell Line	embryonic stem cell
37	chr10:25241000-25242600	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr10:25241000-25242800	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr10:25241200-25242200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr10:25241200-25242200	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr10:25241200-25242200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr10:25241200-25242200	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr10:25241200-25242200	Active TSS	Esophagus	oesophagus
44	chr10:25241200-25242200	Active TSS	Stomach Mucosa	stomach
45	chr10:25241400-25242200	Active TSS	Thymus	Thymus
46	chr10:25241400-25242200	Active TSS	Osteobl	bone
47	chr10:25241400-25242400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:25241400-25242600	Active TSS	Stomach Smooth Muscle	stomach
49	chr10:25241600-25242400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr10:25241600-25242400	Enhancers	Primary B cells from peripheral blood	blood

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