Variant report

Variant	rs530769375
Chromosome Location	chr10:94050296-94050297
allele	A/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	TEAD4	chr10:94049856-94051379	ECC-1	luminal epithelium:	n/a	n/a
2	TAF1	chr10:94049913-94051473	ECC-1	luminal epithelium:	n/a	n/a
3	EGR1	chr10:94049884-94051356	HCT-116	colon:	n/a	chr10:94051056-94051066 chr10:94050099-94050112 chr10:94050603-94050616 chr10:94050098-94050113 chr10:94050901-94050910 chr10:94050397-94050411 chr10:94050400-94050413 chr10:94051299-94051309 chr10:94050530-94050540 chr10:94050445-94050459 chr10:94050100-94050109 chr10:94050853-94050877 chr10:94050399-94050414
4	TAF1	chr10:94050030-94051398	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr10:94049971-94051421	ECC-1	luminal epithelium:	n/a	chr10:94051227-94051241 chr10:94051088-94051099 chr10:94050334-94050345 chr10:94051091-94051100 chr10:94051140-94051151 chr10:94051060-94051069 chr10:94050791-94050802 chr10:94050770-94050784
6	RAD21	chr10:94050076-94051205	SK-N-SH_RA	brain:	n/a	chr10:94050831-94050843 chr10:94050833-94050840
7	GTF2F1	chr10:94049890-94051024	Hela-S3	cervix:	n/a	n/a
8	FOXA1	chr10:94050025-94050362	HepG2	liver:	n/a	n/a
9	POLR2A	chr10:94050027-94050389	MCF10A-Er-Src	breast:	n/a	n/a
10	TAF1	chr10:94050204-94051213	K562	blood:	n/a	n/a
11	SREBP1	chr10:94049892-94051501	GM12878	blood:	n/a	n/a
12	JUND	chr10:94049943-94051264	K562	blood:	n/a	chr10:94050069-94050080
13	ZBTB7A	chr10:94049935-94051479	ECC-1	luminal epithelium:	n/a	n/a
14	PML	chr10:94049865-94051080	K562	blood:	n/a	n/a
15	EGR1	chr10:94049754-94051445	HCT-116	colon:	n/a	chr10:94051056-94051066 chr10:94050099-94050112 chr10:94050603-94050616 chr10:94050098-94050113 chr10:94050901-94050910 chr10:94050397-94050411 chr10:94050400-94050413 chr10:94051299-94051309 chr10:94050530-94050540 chr10:94050445-94050459 chr10:94050100-94050109 chr10:94050853-94050877 chr10:94050399-94050414
16	MAX	chr10:94049994-94050340	H1-hESC	embryonic stem cell:	n/a	n/a
17	CREB1	chr10:94049883-94051564	HepG2	liver:	n/a	n/a
18	TAF1	chr10:94050266-94051319	H1-neurons	neurons:	n/a	n/a
19	ZKSCAN1	chr10:94049966-94050304	Hela-S3	cervix:	n/a	n/a
20	MYC	chr10:94050036-94050299	MCF10A-Er-Src	breast:	n/a	n/a
21	MAX	chr10:94049839-94051562	ECC-1	luminal epithelium:	n/a	chr10:94050400-94050410 chr10:94051513-94051522
22	KAP1	chr10:94049933-94051195	HEK293	kidney:	n/a	n/a
23	CREB1	chr10:94050276-94051348	GM12878	blood:	n/a	n/a
24	RAD21	chr10:94049973-94051115	Hela-S3	cervix:	n/a	chr10:94050831-94050843 chr10:94050833-94050840
25	ZNF143	chr10:94050208-94051205	K562	blood:	n/a	chr10:94050500-94050510 chr10:94050856-94050865 chr10:94050941-94050951 chr10:94050858-94050877 chr10:94050854-94050863 chr10:94050854-94050872
26	MAX	chr10:94049914-94050507	MCF-7	breast:	n/a	chr10:94050400-94050410
27	MAX	chr10:94049787-94051585	A549	lung:	n/a	chr10:94050400-94050410 chr10:94051513-94051522
28	GATA3	chr10:94050021-94051254	A549	lung:	n/a	n/a
29	POLR2A	chr10:94050230-94051275	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr10:94050170-94051442	GM19193	blood:	n/a	n/a
31	ELF1	chr10:94050224-94051504	GM12878	blood:	n/a	chr10:94051091-94051100 chr10:94051060-94051069 chr10:94051234-94051246 chr10:94050569-94050581 chr10:94050799-94050808 chr10:94051056-94051068
32	BHLHE40	chr10:94050075-94051066	K562	blood:	n/a	n/a
33	MTA3	chr10:94050156-94051635	GM12878	blood:	n/a	n/a
34	TCF12	chr10:94049885-94051381	ECC-1	luminal epithelium:	n/a	n/a
35	USF2	chr10:94050005-94050382	Hela-S3	cervix:	n/a	n/a
36	MAX	chr10:94049884-94051237	Hela-S3	cervix:	n/a	chr10:94050400-94050410
37	SMARCC2	chr10:94049890-94050972	Hela-S3	cervix:	n/a	chr10:94050854-94050863
38	GATA3	chr10:94049899-94050328	T-47D	breast:	n/a	n/a
39	MYC	chr10:94049952-94051530	K562	blood:	n/a	chr10:94050400-94050410 chr10:94051513-94051522
40	UBTF	chr10:94050161-94051474	K562	blood:	n/a	n/a
41	MAX	chr10:94049907-94051232	SK-N-SH	brain:	n/a	chr10:94050400-94050410
42	EGR1	chr10:94050267-94050575	GM12878	blood:	n/a	chr10:94050397-94050411 chr10:94050400-94050413 chr10:94050530-94050540 chr10:94050445-94050459 chr10:94050399-94050414
43	CTCF	chr10:94050280-94050430	SK-N-SH_RA	brain:	n/a	n/a
44	POLR2A	chr10:94050178-94051376	Raji	blood:	n/a	n/a
45	YY1	chr10:94050261-94051169	SK-N-SH	brain:	n/a	chr10:94051088-94051099 chr10:94050334-94050345 chr10:94051091-94051100 chr10:94051140-94051151 chr10:94051060-94051069 chr10:94050791-94050802 chr10:94050770-94050784
46	NFIC	chr10:94049952-94051197	ECC-1	luminal epithelium:	n/a	n/a
47	CTBP2	chr10:94049938-94051525	H1-hESC	embryonic stem cell:	n/a	n/a
48	MXI1	chr10:94050006-94051335	HepG2	liver:	n/a	n/a
49	RCOR1	chr10:94050196-94051358	HepG2	liver:	n/a	n/a
50	POLR2A	chr10:94050261-94051309	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:94048555..94050723-chr10:94056799..94059082,2	K562	blood:
2	chr10:93948126..93950243-chr10:94048743..94050692,2	K562	blood:
3	chr10:93973011..93976411-chr10:94049477..94051967,3	K562	blood:
4	chr10:94049633..94050585-chr19:3557462..3558007,2	Hela-S3	cervix:
5	chr10:94050268..94050930-chr8:33341952..33342805,2	Hela-S3	cervix:

Variant related genes	Relation type
MARCH5	TF binding region
ENSG00000161091	Chromatin interaction
ENSG00000198042	Chromatin interaction
ENSG00000105988	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv975763	chr10:93822289-94105956	Enhancers Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	esv3449576	chr10:94048622-94050670	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94049600-94050400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr10:94049600-94052000	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr10:94049600-94052000	Active TSS	Hela-S3	cervix
4	chr10:94049600-94052200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr10:94049600-94052200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:94049600-94052200	Active TSS	HMEC	breast
7	chr10:94049600-94052200	Active TSS	K562	blood
8	chr10:94049600-94052400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr10:94049600-94052400	Active TSS	Right Atrium	heart
10	chr10:94049600-94052600	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr10:94049600-94052600	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr10:94049600-94052600	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr10:94049800-94050400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:94049800-94050400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr10:94049800-94050400	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr10:94049800-94050400	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr10:94049800-94050400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr10:94049800-94050400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr10:94049800-94050400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr10:94049800-94050400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr10:94049800-94050400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr10:94049800-94050400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr10:94049800-94050400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr10:94049800-94050400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr10:94049800-94050400	Active TSS	Brain Germinal Matrix	brain
26	chr10:94049800-94050400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr10:94049800-94050400	Flanking Active TSS	Osteobl	bone
28	chr10:94049800-94050600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr10:94049800-94050600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr10:94049800-94050600	Flanking Active TSS	Dnd41	blood
31	chr10:94049800-94050800	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr10:94049800-94050800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr10:94049800-94051000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr10:94049800-94051200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr10:94049800-94051800	Active TSS	Brain Cingulate Gyrus	brain
36	chr10:94049800-94051800	Active TSS	Brain Hippocampus Middle	brain
37	chr10:94049800-94051800	Active TSS	Colonic Mucosa	Colon
38	chr10:94049800-94051800	Active TSS	Fetal Lung	lung
39	chr10:94049800-94051800	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr10:94049800-94051800	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr10:94049800-94052000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr10:94049800-94052000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr10:94049800-94052000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr10:94049800-94052000	Active TSS	Muscle Satellite Cultured Cells	--
45	chr10:94049800-94052000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr10:94049800-94052000	Active TSS	Brain Angular Gyrus	brain
47	chr10:94049800-94052000	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr10:94049800-94052000	Active TSS	Fetal Brain Female	brain
49	chr10:94049800-94052000	Active TSS	Fetal Intestine Large	intestine
50	chr10:94049800-94052000	Active TSS	Fetal Kidney	kidney

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