Variant report

Variant	rs559562676
Chromosome Location	chr10:94050019-94050020
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	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	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
5	GTF2F1	chr10:94049890-94051024	Hela-S3	cervix:	n/a	n/a
6	SREBP1	chr10:94049892-94051501	GM12878	blood:	n/a	n/a
7	JUND	chr10:94049943-94051264	K562	blood:	n/a	chr10:94050069-94050080
8	ZBTB7A	chr10:94049935-94051479	ECC-1	luminal epithelium:	n/a	n/a
9	PML	chr10:94049865-94051080	K562	blood:	n/a	n/a
10	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
11	MAX	chr10:94049994-94050340	H1-hESC	embryonic stem cell:	n/a	n/a
12	CREB1	chr10:94049883-94051564	HepG2	liver:	n/a	n/a
13	ZKSCAN1	chr10:94049966-94050304	Hela-S3	cervix:	n/a	n/a
14	ZNF143	chr10:94049983-94050289	Hela-S3	cervix:	n/a	n/a
15	MAX	chr10:94049839-94051562	ECC-1	luminal epithelium:	n/a	chr10:94050400-94050410 chr10:94051513-94051522
16	KAP1	chr10:94049933-94051195	HEK293	kidney:	n/a	n/a
17	RAD21	chr10:94049973-94051115	Hela-S3	cervix:	n/a	chr10:94050831-94050843 chr10:94050833-94050840
18	MAX	chr10:94049914-94050507	MCF-7	breast:	n/a	chr10:94050400-94050410
19	MAX	chr10:94049787-94051585	A549	lung:	n/a	chr10:94050400-94050410 chr10:94051513-94051522
20	NFYB	chr10:94049852-94050218	GM12878	blood:	n/a	chr10:94049950-94049963
21	TCF12	chr10:94049885-94051381	ECC-1	luminal epithelium:	n/a	n/a
22	USF2	chr10:94050005-94050382	Hela-S3	cervix:	n/a	n/a
23	MAX	chr10:94049884-94051237	Hela-S3	cervix:	n/a	chr10:94050400-94050410
24	SMARCC2	chr10:94049890-94050972	Hela-S3	cervix:	n/a	chr10:94050854-94050863
25	GATA3	chr10:94049899-94050328	T-47D	breast:	n/a	n/a
26	MYC	chr10:94049952-94051530	K562	blood:	n/a	chr10:94050400-94050410 chr10:94051513-94051522
27	MAX	chr10:94049907-94051232	SK-N-SH	brain:	n/a	chr10:94050400-94050410
28	E2F4	chr10:94049834-94050235	MCF10A-Er-Src	breast:	n/a	chr10:94050029-94050036 chr10:94050028-94050036 chr10:94050025-94050036 chr10:94050028-94050036 chr10:94050026-94050037 chr10:94050027-94050037
29	NFIC	chr10:94049952-94051197	ECC-1	luminal epithelium:	n/a	n/a
30	CTBP2	chr10:94049938-94051525	H1-hESC	embryonic stem cell:	n/a	n/a
31	MXI1	chr10:94050006-94051335	HepG2	liver:	n/a	n/a
32	CCNT2	chr10:94049994-94050259	K562	blood:	n/a	chr10:94050098-94050107
33	FOXA1	chr10:94049915-94050402	T-47D	breast:	n/a	n/a
34	MAZ	chr10:94049995-94052179	K562	blood:	n/a	chr10:94050400-94050410 chr10:94051513-94051522
35	SIN3AK20	chr10:94050005-94051487	PANC-1	pancreas:	n/a	n/a
36	TCF7L2	chr10:94049899-94051275	Hela-S3	cervix:	n/a	n/a
37	MAX	chr10:94049903-94050337	K562	blood:	n/a	n/a
38	POLR2A	chr10:94049903-94051301	Hela-S3	cervix:	n/a	n/a
39	NFYA	chr10:94049886-94050147	Hela-S3	cervix:	n/a	chr10:94049950-94049963
40	SMC3	chr10:94049886-94051535	Hela-S3	cervix:	n/a	n/a
41	E2F6	chr10:94049779-94050417	H1-hESC	embryonic stem cell:	n/a	chr10:94050029-94050036 chr10:94050028-94050036 chr10:94050025-94050036 chr10:94050399-94050408 chr10:94050028-94050036 chr10:94050026-94050037 chr10:94050027-94050037
42	REST	chr10:94049849-94051783	H1-neurons	neurons:	n/a	chr10:94050938-94050951 chr10:94050165-94050185 chr10:94051044-94051057 chr10:94050166-94050184 chr10:94051109-94051122 chr10:94050674-94050694 chr10:94051293-94051306
43	RUNX3	chr10:94049955-94051258	GM12878	blood:	n/a	n/a
44	EP300	chr10:94049852-94051636	ECC-1	luminal epithelium:	n/a	chr10:94051113-94051129 chr10:94050959-94050968 chr10:94051341-94051350 chr10:94050900-94050916
45	SIN3AK20	chr10:94049810-94051607	MCF-7	breast:	n/a	n/a
46	POLR2A	chr10:94049993-94050357	HCT-116	colon:	n/a	n/a
47	MAX	chr10:94049912-94051316	NB4	blood:	n/a	chr10:94050400-94050410
48	POLR2A	chr10:94049806-94052098	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr10:94049941-94051414	Hela-S3	cervix:	n/a	n/a
50	FOXA1	chr10:94049928-94050915	HepG2	liver:	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:

Variant related genes	Relation type
MARCH5	TF binding region
ENSG00000161091	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	chr10:94049600-94050200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr10:94049600-94050400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr10:94049600-94052000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr10:94049600-94052000	Active TSS	Hela-S3	cervix
5	chr10:94049600-94052200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr10:94049600-94052200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:94049600-94052200	Active TSS	HMEC	breast
8	chr10:94049600-94052200	Active TSS	K562	blood
9	chr10:94049600-94052400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr10:94049600-94052400	Active TSS	Right Atrium	heart
11	chr10:94049600-94052600	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr10:94049600-94052600	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr10:94049600-94052600	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr10:94049800-94050200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr10:94049800-94050200	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr10:94049800-94050200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr10:94049800-94050200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr10:94049800-94050200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:94049800-94050200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:94049800-94050200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:94049800-94050200	Flanking Active TSS	Liver	Liver
22	chr10:94049800-94050200	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr10:94049800-94050200	Flanking Active TSS	Fetal Brain Male	brain
24	chr10:94049800-94050200	Flanking Active TSS	Fetal Muscle Leg	muscle
25	chr10:94049800-94050200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr10:94049800-94050200	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr10:94049800-94050200	Flanking Active TSS	HUVEC	blood vessel
28	chr10:94049800-94050200	Flanking Active TSS	NH-A	brain
29	chr10:94049800-94050200	Flanking Active TSS	NHEK	skin
30	chr10:94049800-94050400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr10:94049800-94050400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr10:94049800-94050400	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr10:94049800-94050400	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr10:94049800-94050400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr10:94049800-94050400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr10:94049800-94050400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr10:94049800-94050400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr10:94049800-94050400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr10:94049800-94050400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr10:94049800-94050400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:94049800-94050400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr10:94049800-94050400	Active TSS	Brain Germinal Matrix	brain
43	chr10:94049800-94050400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr10:94049800-94050400	Flanking Active TSS	Osteobl	bone
45	chr10:94049800-94050600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr10:94049800-94050600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr10:94049800-94050600	Flanking Active TSS	Dnd41	blood
48	chr10:94049800-94050800	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr10:94049800-94050800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr10:94049800-94051000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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