Variant report

Variant	rs542406135
Chromosome Location	chr10:94049865-94049866
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	TEAD4	chr10:94049856-94051379	ECC-1	luminal epithelium:	n/a	n/a
2	PML	chr10:94049865-94051080	K562	blood:	n/a	n/a
3	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
4	MAX	chr10:94049839-94051562	ECC-1	luminal epithelium:	n/a	chr10:94050400-94050410 chr10:94051513-94051522
5	MAX	chr10:94049787-94051585	A549	lung:	n/a	chr10:94050400-94050410 chr10:94051513-94051522
6	NFYB	chr10:94049852-94050218	GM12878	blood:	n/a	chr10:94049950-94049963
7	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
8	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
9	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
10	EP300	chr10:94049852-94051636	ECC-1	luminal epithelium:	n/a	chr10:94051113-94051129 chr10:94050959-94050968 chr10:94051341-94051350 chr10:94050900-94050916
11	SIN3AK20	chr10:94049810-94051607	MCF-7	breast:	n/a	n/a
12	POLR2A	chr10:94049806-94052098	Hela-S3	cervix:	n/a	n/a
13	HA-E2F1	chr10:94049829-94051270	MCF-7	breast:	n/a	chr10:94050029-94050036 chr10:94051144-94051154 chr10:94050028-94050036 chr10:94050025-94050036 chr10:94050399-94050408 chr10:94050028-94050036 chr10:94050026-94050037 chr10:94050027-94050037
14	MAX	chr10:94049831-94051598	ECC-1	luminal epithelium:	n/a	chr10:94050400-94050410 chr10:94051513-94051522
15	NFYB	chr10:94049832-94050108	Hela-S3	cervix:	n/a	chr10:94049950-94049963
16	SIN3A	chr10:94049846-94052173	H1-hESC	embryonic stem cell:	n/a	chr10:94050535-94050546 chr10:94051293-94051306 chr10:94050474-94050485 chr10:94051109-94051122
17	POLR2A	chr10:94049806-94051585	Hela-S3	cervix:	n/a	n/a
18	MXI1	chr10:94049850-94051279	GM12878	blood:	n/a	n/a
19	TCF12	chr10:94049829-94051526	A549	lung:	n/a	n/a
20	SMC3	chr10:94049700-94052304	SK-N-SH	brain:	n/a	chr10:94052017-94052031
21	TBP	chr10:94049864-94051055	Hela-S3	cervix:	n/a	n/a
22	MAX	chr10:94049790-94051538	HCT-116	colon:	n/a	chr10:94050400-94050410 chr10:94051513-94051522
23	JUN	chr10:94049615-94051604	K562	blood:	n/a	chr10:94050069-94050080 chr10:94049643-94049652
24	HCFC1	chr10:94049699-94052702	Hela-S3	cervix:	n/a	n/a
25	TCF7L2	chr10:94049830-94050364	HEK293	kidney:	n/a	n/a
26	CTCF	chr10:94049845-94051720	A549	lung:	n/a	chr10:94050753-94050762 chr10:94050827-94050840

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
ENSG00000105988	Chromatin interaction
ENSG00000161091	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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94044200-94050000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:94046000-94050000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:94049000-94050000	Weak transcription	Esophagus	oesophagus
4	chr10:94049000-94050000	Weak transcription	Left Ventricle	heart
5	chr10:94049200-94050000	Weak transcription	Lung	lung
6	chr10:94049600-94050200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr10:94049600-94050400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:94049600-94052000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr10:94049600-94052000	Active TSS	Hela-S3	cervix
10	chr10:94049600-94052200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr10:94049600-94052200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:94049600-94052200	Active TSS	HMEC	breast
13	chr10:94049600-94052200	Active TSS	K562	blood
14	chr10:94049600-94052400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr10:94049600-94052400	Active TSS	Right Atrium	heart
16	chr10:94049600-94052600	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr10:94049600-94052600	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr10:94049600-94052600	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr10:94049800-94050000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:94049800-94050000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr10:94049800-94050000	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr10:94049800-94050000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr10:94049800-94050000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr10:94049800-94050000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
25	chr10:94049800-94050000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr10:94049800-94050000	Active TSS	Adipose Nuclei	Adipose
27	chr10:94049800-94050000	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr10:94049800-94050000	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr10:94049800-94050000	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr10:94049800-94050000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr10:94049800-94050000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr10:94049800-94050000	Active TSS	Fetal Muscle Trunk	muscle
33	chr10:94049800-94050000	Active TSS	Placenta	Placenta
34	chr10:94049800-94050000	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr10:94049800-94050000	Flanking Active TSS	Stomach Mucosa	stomach
36	chr10:94049800-94050000	Flanking Bivalent TSS/Enh	HepG2	liver
37	chr10:94049800-94050200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr10:94049800-94050200	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr10:94049800-94050200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr10:94049800-94050200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr10:94049800-94050200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr10:94049800-94050200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr10:94049800-94050200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr10:94049800-94050200	Flanking Active TSS	Liver	Liver
45	chr10:94049800-94050200	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr10:94049800-94050200	Flanking Active TSS	Fetal Brain Male	brain
47	chr10:94049800-94050200	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr10:94049800-94050200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr10:94049800-94050200	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr10:94049800-94050200	Flanking Active TSS	HUVEC	blood vessel

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