Variant report

Variant	rs550820829
Chromosome Location	chr10:93169031-93169032
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:143)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:143 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr10:93168830-93169893	HEK293	kidney:	n/a	chr10:93169867-93169875
2	MAZ	chr10:93168879-93171144	K562	blood:	n/a	chr10:93169943-93169953
3	MAFK	chr10:93168433-93169959	Hela-S3	cervix:	n/a	chr10:93168524-93168540 chr10:93168524-93168535 chr10:93168525-93168536 chr10:93168524-93168535 chr10:93168524-93168539
4	SP1	chr10:93168942-93169927	A549	lung:	n/a	chr10:93169400-93169414 chr10:93169357-93169371 chr10:93169067-93169081
5	CTCF	chr10:93168960-93169110	NB4	blood:	n/a	n/a
6	CTCF	chr10:93168920-93169070	RPTEC	kidney:	n/a	n/a
7	TBP	chr10:93168758-93169908	Hela-S3	cervix:	n/a	n/a
8	RAD21	chr10:93168837-93169163	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr10:93168899-93170925	K562	blood:	n/a	n/a
10	CTCF	chr10:93169000-93169150	NHEK	skin:	n/a	n/a
11	CTCF	chr10:93169020-93169170	HFF	foreskin:	n/a	n/a
12	CTCF	chr10:93168845-93169097	K562	blood:	n/a	n/a
13	POLR2A	chr10:93168772-93170999	Hela-S3	cervix:	n/a	n/a
14	RAD21	chr10:93168835-93169608	SK-N-SH_RA	brain:	n/a	n/a
15	POLR2A	chr10:93169016-93170954	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr10:93168991-93170291	K562	blood:	n/a	n/a
17	POLR2A	chr10:93169004-93170029	HepG2	liver:	n/a	n/a
18	MAZ	chr10:93168889-93170849	Hela-S3	cervix:	n/a	chr10:93169943-93169953
19	POLR2A	chr10:93168929-93170672	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr10:93168841-93170641	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr10:93168769-93171125	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr10:93168962-93170730	GM12878	blood:	n/a	n/a
23	TEAD4	chr10:93168856-93170358	ECC-1	luminal epithelium:	n/a	n/a
24	CTCF	chr10:93168960-93169110	AoAF	blood vessel:	n/a	n/a
25	ZBTB7A	chr10:93168938-93171166	ECC-1	luminal epithelium:	n/a	n/a
26	ATF2	chr10:93168860-93169130	H1-hESC	embryonic stem cell:	n/a	n/a
27	TCF12	chr10:93168877-93170145	ECC-1	luminal epithelium:	n/a	n/a
28	MAX	chr10:93168917-93171058	Hela-S3	cervix:	n/a	chr10:93169943-93169953
29	CTCF	chr10:93168940-93169090	HMF	breast:	n/a	n/a
30	POLR2A	chr10:93168852-93170315	K562	blood:	n/a	n/a
31	POLR2A	chr10:93168909-93170036	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr10:93168920-93169070	HCPEpiC	choroid plexus:	n/a	n/a
33	MAZ	chr10:93168850-93171173	IMR90	lung:	n/a	chr10:93169943-93169953
34	POLR2A	chr10:93168327-93170628	MCF10A-Er-Src	breast:	n/a	n/a
35	CHD1	chr10:93169010-93169886	H1-hESC	embryonic stem cell:	n/a	n/a
36	MYC	chr10:93168838-93170298	K562	blood:	n/a	chr10:93169943-93169953
37	TEAD4	chr10:93168867-93170141	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr10:93168826-93170956	PBDE	blood:	n/a	n/a
39	ELK1	chr10:93169014-93170379	Hela-S3	cervix:	n/a	n/a
40	EP300	chr10:93169021-93169737	A549	lung:	n/a	n/a
41	CTCF	chr10:93168940-93169090	HCFaa	heart:	n/a	n/a
42	POLR2A	chr10:93168948-93170539	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr10:93168999-93170109	Hela-S3	cervix:	n/a	chr10:93169090-93169101
44	POLR2A	chr10:93169022-93170089	GM12891	blood:	n/a	n/a
45	REST	chr10:93168878-93170037	A549	lung:	n/a	chr10:93169793-93169803
46	TAF1	chr10:93169005-93170013	A549	lung:	n/a	n/a
47	IRF1	chr10:93168952-93169409	K562	blood:	n/a	n/a
48	POLR2A	chr10:93168830-93171321	MCF10A-Er-Src	breast:	n/a	n/a
49	HEY1	chr10:93168994-93170346	HepG2	liver:	n/a	chr10:93169989-93170004
50	TBP	chr10:93168948-93170457	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:93168991-93169041	SK-N-MC	brain:	n/a
2	chr10:93168991-93169041	RPTEC	kidney:	n/a
3	chr10:93168991-93169041	HMEC	breast:	n/a
4	chr10:93168991-93169041	H1-hESC	embryonic stem cell:	embryo
5	chr10:93168991-93169041	AoSMC	blood vessel:	n/a
6	chr10:93168991-93169041	NB4	blood:	n/a
7	chr10:93168991-93169041	SKMC	muscle:	n/a
8	chr10:93168991-93169041	HL-60	blood:	n/a
9	chr10:93168991-93169041	NHBE	bronchial:	n/a
10	chr10:93168991-93169041	HIPEpiC	eye:	n/a
11	chr10:93168991-93169041	HCT-116	colon:	n/a
12	chr10:93168991-93169041	MCF10A-Er-Src	breast:	n/a
13	chr10:93168991-93169041	BE2_C	brain:	n/a
14	chr10:93168991-93169041	AG09319	gingival:	n/a
15	chr10:93168991-93169041	Jurkat	blood:	n/a
16	chr10:93168991-93169041	GM19239	blood:	n/a
17	chr10:93168991-93169041	Hela-S3	cervix:	n/a
18	chr10:93168991-93169041	PFSK-1	brain:	n/a
19	chr10:93168991-93169041	K562	blood:	n/a
20	chr10:93168991-93169041	HUVEC	blood vessel:	n/a
21	chr10:93168991-93169041	NHDF-neo	bronchial:	n/a
22	chr10:93168991-93169041	Hepatocyte	liver:	n/a
23	chr10:93168991-93169041	CMK	blood:	n/a
24	chr10:93168991-93169041	HRCEpiC	kidney:	n/a
25	chr10:93168991-93169041	Caco-2	colon:	n/a
26	chr10:93168991-93169041	ProgFib	skin:	n/a
27	chr10:93168991-93169041	T-47D	breast:	n/a
28	chr10:93168991-93169041	PANC-1	pancreas:	n/a
29	chr10:93168991-93169041	AG09309	skin:	n/a
30	chr10:93168991-93169041	HEK293	kidney:	embryo
31	chr10:93168991-93169041	SK-N-SH	brain:	n/a
32	chr10:93168991-93169041	HEEpiC	esophagus:	n/a
33	chr10:93168991-93169041	SK-N-SH_RA	brain:	n/a
34	chr10:93168991-93169041	HCF	heart:	n/a
35	chr10:93168991-93169041	GM06990	blood:	n/a
36	chr10:93168991-93169041	SAEC	small airway:	n/a
37	chr10:93168991-93169041	ECC-1	luminal epithelium:	n/a
38	chr10:93168991-93169041	HAEpiC	amniotic membrane:	n/a
39	chr10:93168991-93169041	NH-A	brain:	n/a
40	chr10:93168991-93169041	AG04450	lung:	fetal
41	chr10:93168991-93169041	HCM	heart:	n/a
42	chr10:93168991-93169041	HCPEpiC	choroid plexus:	n/a
43	chr10:93168991-93169041	PrEC	prostate:	n/a
44	chr10:93168991-93169041	GM12878	blood:	n/a
45	chr10:93168991-93169041	HNPCEpiC	eye:	n/a
46	chr10:93168991-93169041	HRE	kidney:	n/a
47	chr10:93168991-93169041	GM12891	blood:	n/a
48	chr10:93168991-93169041	HepG2	liver:	n/a
49	chr10:93168991-93169041	NT2-D1	testis:	n/a
50	chr10:93168991-93169041	AG10803	skin:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:93159316..93160833-chr10:93167746..93169415,2	MCF-7	breast:
2	chr10:93168951..93169596-chr5:125930397..125930920,2	Hela-S3	cervix:
3	chr10:93168063..93170852-chr10:93390602..93395151,5	MCF-7	breast:
4	chr10:93168988..93169938-chr3:88199134..88199655,2	Hela-S3	cervix:
5	chr10:93168131..93170607-chr10:93391298..93393665,3	MCF-7	breast:
6	chr10:93158520..93160600-chr10:93166963..93169198,3	K562	blood:
7	chr10:93168731..93169253-chr20:62670096..62670977,2	Hela-S3	cervix:
8	chr10:93168860..93169608-chr13:28033243..28034233,2	MCF-7	breast:
9	chr10:93168802..93169644-chr11:84197576..84198076,2	Hela-S3	cervix:
10	chr10:93168839..93171584-chr10:93557037..93559095,2	K562	blood:

No data

Variant related genes	Relation type
HECTD2	TF binding region
HECTD2	CpG island
ENSG00000179021	Chromatin interaction
ENSG00000164904	Chromatin interaction
ENSG00000107854	Chromatin interaction
ENSG00000228701	Chromatin interaction
ENSG00000119938	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv1040403	chr10:93165819-93225036	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv3341572	chr10:93168997-93171545	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93168200-93170600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr10:93168400-93170800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:93168600-93169200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr10:93168600-93169200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr10:93168600-93169400	Flanking Active TSS	Dnd41	blood
6	chr10:93168600-93169400	Active TSS	HMEC	breast
7	chr10:93168600-93170400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr10:93168600-93170400	Active TSS	Brain Angular Gyrus	brain
9	chr10:93168600-93170400	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr10:93168600-93171000	Active TSS	Colon Smooth Muscle	Colon
11	chr10:93168600-93171000	Active TSS	Fetal Intestine Large	intestine
12	chr10:93168600-93171200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:93168600-93171400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr10:93168600-93171400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr10:93168600-93171400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr10:93168600-93171400	Active TSS	A549	lung
17	chr10:93168600-93171600	Active TSS	Fetal Brain Female	brain
18	chr10:93168800-93169200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr10:93168800-93169200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr10:93168800-93169200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr10:93168800-93169200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr10:93168800-93169200	Flanking Active TSS	Liver	Liver
23	chr10:93168800-93169200	Active TSS	Brain Germinal Matrix	brain
24	chr10:93168800-93169200	Active TSS	Colonic Mucosa	Colon
25	chr10:93168800-93169200	Active TSS	Right Atrium	heart
26	chr10:93168800-93169200	Flanking Active TSS	NH-A	brain
27	chr10:93168800-93169200	Flanking Active TSS	Osteobl	bone
28	chr10:93168800-93169400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr10:93168800-93169400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr10:93168800-93169400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr10:93168800-93169400	Flanking Active TSS	HUVEC	blood vessel
32	chr10:93168800-93169400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
33	chr10:93168800-93169400	Flanking Active TSS	NHEK	skin
34	chr10:93168800-93169600	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr10:93168800-93169600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr10:93168800-93169600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr10:93168800-93169600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr10:93168800-93169600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr10:93168800-93170200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr10:93168800-93170400	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr10:93168800-93170400	Active TSS	Primary T cells from cord blood	blood
42	chr10:93168800-93170400	Active TSS	Adipose Nuclei	Adipose
43	chr10:93168800-93170400	Active TSS	Fetal Muscle Trunk	muscle
44	chr10:93168800-93170400	Active TSS	Pancreas	Pancrea
45	chr10:93168800-93170400	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr10:93168800-93170400	Active TSS	Thymus	Thymus
47	chr10:93168800-93170400	Active TSS	GM12878-XiMat	blood
48	chr10:93168800-93170600	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr10:93168800-93170600	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr10:93168800-93170600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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