Variant report

Variant	rs572073107
Chromosome Location	chr10:93170041-93170042
allele	-/GGCGCG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:367)
CpG islands
(count:122)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr10:93169064-93170275	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr10:93169147-93170505	GM12878	blood:	n/a	n/a
3	POLR2A	chr10:93169045-93170788	MCF-7	breast:	n/a	n/a
4	CTCF	chr10:93169992-93170278	Pancreas_OC	pancreas:	n/a	n/a
5	MAZ	chr10:93168879-93171144	K562	blood:	n/a	chr10:93169943-93169953
6	POLR2A	chr10:93169704-93170392	HCT-116	colon:	n/a	n/a
7	JUND	chr10:93169111-93170583	A549	lung:	n/a	chr10:93169942-93169951 chr10:93169403-93169417
8	MAX	chr10:93169214-93170940	A549	lung:	n/a	chr10:93169943-93169953
9	CREB1	chr10:93169109-93170220	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr10:93169991-93170307	GM12891	blood:	n/a	n/a
11	POLR2A	chr10:93169125-93170122	GM12878	blood:	n/a	n/a
12	ZNF143	chr10:93169046-93170563	Hela-S3	cervix:	n/a	chr10:93169943-93169953
13	PML	chr10:93169336-93170045	K562	blood:	n/a	chr10:93169867-93169875
14	RAD21	chr10:93169936-93170322	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr10:93169103-93170108	GM12891	blood:	n/a	n/a
16	CTCF	chr10:93170024-93170294	Lung_OC	lung:	n/a	n/a
17	POLR2A	chr10:93169114-93170927	Hela-S3	cervix:	n/a	n/a
18	TCF3	chr10:93169555-93170214	GM12878	blood:	n/a	n/a
19	POLR2A	chr10:93169176-93170520	A549	lung:	n/a	n/a
20	CTCF	chr10:93170040-93170190	GM12873	blood:	n/a	n/a
21	YY1	chr10:93169397-93170472	H1-hESC	embryonic stem cell:	n/a	chr10:93169949-93169960 chr10:93170345-93170359 chr10:93169943-93169957 chr10:93170358-93170372 chr10:93169839-93169849 chr10:93169837-93169849
22	CTCF	chr10:93170040-93170190	HBMEC	blood vessel:	n/a	n/a
23	POLR2A	chr10:93168899-93170925	K562	blood:	n/a	n/a
24	POLR2A	chr10:93169216-93170486	GM15510	blood:	n/a	n/a
25	PML	chr10:93169087-93170144	GM12878	blood:	n/a	chr10:93169867-93169875
26	CTCF	chr10:93169976-93170331	MCF-7	breast:	n/a	n/a
27	CREB1	chr10:93169118-93170615	HepG2	liver:	n/a	n/a
28	CREB1	chr10:93169184-93170516	A549	lung:	n/a	n/a
29	RAD21	chr10:93169909-93170268	HepG2	liver:	n/a	n/a
30	POLR2A	chr10:93169121-93170312	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr10:93169968-93170309	Fibrobl	skin:	n/a	n/a
32	EGR1	chr10:93169696-93170209	K562	blood:	n/a	chr10:93169945-93169959 chr10:93170011-93170025 chr10:93169942-93169952 chr10:93169944-93169957
33	POLR2A	chr10:93168772-93170999	Hela-S3	cervix:	n/a	n/a
34	TAF7	chr10:93169295-93170134	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr10:93170000-93170150	HBMEC	blood vessel:	n/a	n/a
36	POLR2A	chr10:93169016-93170954	Hela-S3	cervix:	n/a	n/a
37	RAD21	chr10:93169954-93170303	H1-hESC	embryonic stem cell:	n/a	n/a
38	YY1	chr10:93169350-93170402	H1-hESC	embryonic stem cell:	n/a	chr10:93169949-93169960 chr10:93170345-93170359 chr10:93169943-93169957 chr10:93170358-93170372 chr10:93169839-93169849 chr10:93169837-93169849
39	POLR2A	chr10:93169129-93170447	GM18951	blood:	n/a	n/a
40	EGR1	chr10:93169630-93170283	K562	blood:	n/a	chr10:93169945-93169959 chr10:93170011-93170025 chr10:93169942-93169952 chr10:93169944-93169957
41	CTCF	chr10:93170016-93170211	K562	blood:	n/a	n/a
42	POLR2A	chr10:93168991-93170291	K562	blood:	n/a	n/a
43	CTCF	chr10:93169970-93170255	GM13977	blood:	n/a	n/a
44	CTCF	chr10:93169973-93170283	GM19240	blood:	n/a	n/a
45	CTCF	chr10:93170009-93170228	LNCaP	prostate:	n/a	n/a
46	YY1	chr10:93169636-93170253	GM12891	blood:	n/a	chr10:93169949-93169960 chr10:93169943-93169957 chr10:93169839-93169849 chr10:93169837-93169849
47	CTCF	chr10:93170040-93170190	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr10:93170020-93170170	GM12864	blood:	n/a	n/a
49	CTCF	chr10:93170018-93170210	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr10:93169073-93170556	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:93170010-93170060	Jurkat	blood:	n/a
2	chr10:93169999-93170049	ovcar-3	ovarian:	n/a
3	chr10:93170010-93170060	PFSK-1	brain:	n/a
4	chr10:93169999-93170049	CMK	blood:	n/a
5	chr10:93170010-93170060	HUVEC	blood vessel:	n/a
6	chr10:93169999-93170049	NB4	blood:	n/a
7	chr10:93170010-93170060	SK-N-SH	brain:	n/a
8	chr10:93170010-93170060	MCF-7	breast:	n/a
9	chr10:93169999-93170049	HRPEpiC	eye:	n/a
10	chr10:93169999-93170049	HEEpiC	esophagus:	n/a
11	chr10:93170010-93170060	BE2_C	brain:	n/a
12	chr10:93170010-93170060	SKMC	muscle:	n/a
13	chr10:93170010-93170060	BJ	skin:	n/a
14	chr10:93169999-93170049	SK-N-SH	brain:	n/a
15	chr10:93170010-93170060	HAEpiC	amniotic membrane:	n/a
16	chr10:93170010-93170060	AG09309	skin:	n/a
17	chr10:93170010-93170060	HCT-116	colon:	n/a
18	chr10:93169999-93170049	HepG2	liver:	n/a
19	chr10:93170010-93170060	HRPEpiC	eye:	n/a
20	chr10:93170010-93170060	HRE	kidney:	n/a
21	chr10:93169999-93170049	HEK293	kidney:	embryo
22	chr10:93170010-93170060	SAEC	small airway:	n/a
23	chr10:93170010-93170060	HEK293	kidney:	embryo
24	chr10:93169999-93170049	GM12892	blood:	n/a
25	chr10:93170010-93170060	GM12878	blood:	n/a
26	chr10:93169999-93170049	HL-60	blood:	n/a
27	chr10:93170010-93170060	NH-A	brain:	n/a
28	chr10:93169999-93170049	SKMC	muscle:	n/a
29	chr10:93169999-93170049	PFSK-1	brain:	n/a
30	chr10:93170010-93170060	HIPEpiC	eye:	n/a
31	chr10:93169999-93170049	AG04449	skin:	fetal
32	chr10:93169999-93170049	T-47D	breast:	n/a
33	chr10:93170010-93170060	NHDF-neo	bronchial:	n/a
34	chr10:93170010-93170060	PrEC	prostate:	n/a
35	chr10:93170010-93170060	AG04449	skin:	fetal
36	chr10:93169999-93170049	SAEC	small airway:	n/a
37	chr10:93169999-93170049	MCF-7	breast:	n/a
38	chr10:93169999-93170049	A549	lung:	n/a
39	chr10:93169999-93170049	HPAEpiC	pulmonary alveolar:	n/a
40	chr10:93169999-93170049	ProgFib	skin:	n/a
41	chr10:93169999-93170049	Hela-S3	cervix:	n/a
42	chr10:93169999-93170049	PrEC	prostate:	n/a
43	chr10:93169999-93170049	GM12891	blood:	n/a
44	chr10:93169999-93170049	Hepatocyte	liver:	n/a
45	chr10:93170010-93170060	IMR90	lung:	fetal
46	chr10:93170010-93170060	Caco-2	colon:	n/a
47	chr10:93170010-93170060	RPTEC	kidney:	n/a
48	chr10:93169999-93170049	NT2-D1	testis:	n/a
49	chr10:93170010-93170060	NT2-D1	testis:	n/a
50	chr10:93170010-93170060	HEEpiC	esophagus:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr10:93169514..93170511-chr9:33290299..33290922,2	Hela-S3	cervix:
2	chr10:93168063..93170852-chr10:93390602..93395151,5	MCF-7	breast:
3	chr10:93168131..93170607-chr10:93391298..93393665,3	MCF-7	breast:
4	chr10:93169306..93170178-chr9:140135319..140136083,2	Hela-S3	cervix:
5	chr10:93169300..93170227-chr5:43514707..43515605,2	Hela-S3	cervix:
6	chr10:93169232..93170758-chr10:93223754..93225469,2	MCF-7	breast:
7	chr10:93169367..93170145-chr7:6388240..6389220,2	Hela-S3	cervix:
8	chr10:93169693..93170374-chr12:112450481..112451156,2	Hela-S3	cervix:
9	chr10:93169304..93170110-chr15:66161337..66161844,2	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
ENSG00000271385	Chromatin interaction
ENSG00000188229	Chromatin interaction
ENSG00000086102	Chromatin interaction
ENSG00000198270	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000248240	Chromatin interaction
ENSG00000178397	Chromatin interaction
ENSG00000089248	Chromatin interaction
ENSG00000103769	Chromatin interaction
ENSG00000119938	Chromatin interaction
ENSG00000107854	Chromatin interaction
ENSG00000228701	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	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
3	esv3438487	chr10:93169572-93170820	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 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	chr10:93168600-93170400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr10:93168600-93170400	Active TSS	Brain Angular Gyrus	brain
5	chr10:93168600-93170400	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr10:93168600-93171000	Active TSS	Colon Smooth Muscle	Colon
7	chr10:93168600-93171000	Active TSS	Fetal Intestine Large	intestine
8	chr10:93168600-93171200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:93168600-93171400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr10:93168600-93171400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:93168600-93171400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr10:93168600-93171400	Active TSS	A549	lung
13	chr10:93168600-93171600	Active TSS	Fetal Brain Female	brain
14	chr10:93168800-93170200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr10:93168800-93170400	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr10:93168800-93170400	Active TSS	Primary T cells from cord blood	blood
17	chr10:93168800-93170400	Active TSS	Adipose Nuclei	Adipose
18	chr10:93168800-93170400	Active TSS	Fetal Muscle Trunk	muscle
19	chr10:93168800-93170400	Active TSS	Pancreas	Pancrea
20	chr10:93168800-93170400	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr10:93168800-93170400	Active TSS	Thymus	Thymus
22	chr10:93168800-93170400	Active TSS	GM12878-XiMat	blood
23	chr10:93168800-93170600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr10:93168800-93170600	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr10:93168800-93170600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr10:93168800-93170600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:93168800-93170600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr10:93168800-93170600	Active TSS	Fetal Muscle Leg	muscle
29	chr10:93168800-93170600	Active TSS	Fetal Thymus	thymus
30	chr10:93168800-93170800	Active TSS	Brain Substantia Nigra	brain
31	chr10:93168800-93170800	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr10:93168800-93170800	Active TSS	Fetal Intestine Small	intestine
33	chr10:93168800-93170800	Active TSS	Rectal Smooth Muscle	rectum
34	chr10:93168800-93171000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr10:93168800-93171000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr10:93168800-93171000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr10:93168800-93171000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr10:93168800-93171000	Active TSS	Duodenum Mucosa	Duodenum
39	chr10:93168800-93171000	ZNF genes & repeats	Fetal Brain Male	brain
40	chr10:93168800-93171000	Active TSS	Placenta	Placenta
41	chr10:93168800-93171000	Active TSS	Left Ventricle	heart
42	chr10:93168800-93171000	Active TSS	Hela-S3	cervix
43	chr10:93168800-93171000	Active TSS	HSMMtube	muscle
44	chr10:93168800-93171200	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr10:93168800-93171200	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr10:93168800-93171200	Active TSS	Brain Cingulate Gyrus	brain
47	chr10:93168800-93171200	Active TSS	Fetal Lung	lung
48	chr10:93168800-93171200	Active TSS	Right Ventricle	heart
49	chr10:93168800-93171200	Active TSS	NHLF	lung
50	chr10:93168800-93171400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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