Variant report

Variant	rs577259268
Chromosome Location	chr10:93169420-93169421
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	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	KAP1	chr10:93168830-93169893	HEK293	kidney:	n/a	chr10:93169867-93169875
5	MAZ	chr10:93168879-93171144	K562	blood:	n/a	chr10:93169943-93169953
6	MAFK	chr10:93168433-93169959	Hela-S3	cervix:	n/a	chr10:93168524-93168540 chr10:93168524-93168535 chr10:93168525-93168536 chr10:93168524-93168535 chr10:93168524-93168539
7	POLR2A	chr10:93169042-93170019	HepG2	liver:	n/a	n/a
8	JUND	chr10:93169111-93170583	A549	lung:	n/a	chr10:93169942-93169951 chr10:93169403-93169417
9	MAX	chr10:93169214-93170940	A549	lung:	n/a	chr10:93169943-93169953
10	CREB1	chr10:93169109-93170220	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr10:93169099-93170025	GM12878	blood:	n/a	n/a
12	EP300	chr10:93169070-93169476	K562	blood:	n/a	n/a
13	POLR2A	chr10:93169125-93170122	GM12878	blood:	n/a	n/a
14	GATA3	chr10:93169083-93169587	T-47D	breast:	n/a	n/a
15	ZNF143	chr10:93169046-93170563	Hela-S3	cervix:	n/a	chr10:93169943-93169953
16	PML	chr10:93169336-93170045	K562	blood:	n/a	chr10:93169867-93169875
17	SP1	chr10:93168942-93169927	A549	lung:	n/a	chr10:93169400-93169414 chr10:93169357-93169371 chr10:93169067-93169081
18	PAX5	chr10:93169203-93169551	GM12878	blood:	n/a	n/a
19	POLR2A	chr10:93169103-93170108	GM12891	blood:	n/a	n/a
20	POLR2A	chr10:93169217-93169987	GM12892	blood:	n/a	n/a
21	POLR2A	chr10:93169114-93170927	Hela-S3	cervix:	n/a	n/a
22	EP300	chr10:93169199-93169587	T-47D	breast:	n/a	n/a
23	POLR2A	chr10:93169176-93170520	A549	lung:	n/a	n/a
24	TBP	chr10:93168758-93169908	Hela-S3	cervix:	n/a	n/a
25	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
26	POLR2A	chr10:93168899-93170925	K562	blood:	n/a	n/a
27	POLR2A	chr10:93169216-93170486	GM15510	blood:	n/a	n/a
28	PML	chr10:93169087-93170144	GM12878	blood:	n/a	chr10:93169867-93169875
29	CREB1	chr10:93169118-93170615	HepG2	liver:	n/a	n/a
30	CREB1	chr10:93169184-93170516	A549	lung:	n/a	n/a
31	POLR2A	chr10:93169121-93170312	HUVEC	blood vessel:	n/a	n/a
32	FOXA1	chr10:93169043-93169594	T-47D	breast:	n/a	n/a
33	ZC3H11A	chr10:93169357-93169790	K562	blood:	n/a	n/a
34	CTCF	chr10:93169360-93169510	HVMF	connective:	n/a	n/a
35	YY1	chr10:93169311-93170002	NT2-D1	testis:	n/a	chr10:93169949-93169960 chr10:93169943-93169957 chr10:93169839-93169849 chr10:93169837-93169849
36	POLR2A	chr10:93168772-93170999	Hela-S3	cervix:	n/a	n/a
37	RAD21	chr10:93168835-93169608	SK-N-SH_RA	brain:	n/a	n/a
38	TAF7	chr10:93169295-93170134	H1-hESC	embryonic stem cell:	n/a	n/a
39	TAF1	chr10:93169172-93169618	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr10:93169016-93170954	Hela-S3	cervix:	n/a	n/a
41	NFYA	chr10:93169208-93169505	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr10:93169406-93169452	Spleen_OC	spleen:	n/a	n/a
43	TAF1	chr10:93169363-93169515	GM12892	blood:	n/a	n/a
44	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
45	RAD21	chr10:93169167-93169549	SK-N-SH_RA	brain:	n/a	n/a
46	POLR2A	chr10:93169129-93170447	GM18951	blood:	n/a	n/a
47	POLR2A	chr10:93168991-93170291	K562	blood:	n/a	n/a
48	MYBL2	chr10:93169136-93169852	HepG2	liver:	n/a	n/a
49	POLR2A	chr10:93169073-93170556	K562	blood:	n/a	n/a
50	YY1	chr10:93169159-93170642	A549	lung:	n/a	chr10:93169949-93169960 chr10:93170345-93170359 chr10:93169943-93169957 chr10:93170358-93170372 chr10:93169839-93169849 chr10:93169837-93169849

No.	Distal block	Cell Line	Cell type
1	chr10:93169213..93169954-chr3:48955790..48956733,2	Hela-S3	cervix:
2	chr10:93168951..93169596-chr5:125930397..125930920,2	Hela-S3	cervix:
3	chr1:46712902..46713808-chr10:93169416..93170036,2	Hela-S3	cervix:
4	chr10:93168063..93170852-chr10:93390602..93395151,5	MCF-7	breast:
5	chr10:93168988..93169938-chr3:88199134..88199655,2	Hela-S3	cervix:
6	chr10:93168131..93170607-chr10:93391298..93393665,3	MCF-7	breast:
7	chr10:93169248..93169804-chr3:160166588..160167517,2	Hela-S3	cervix:
8	chr10:93169306..93170178-chr9:140135319..140136083,2	Hela-S3	cervix:
9	chr10:93168860..93169608-chr13:28033243..28034233,2	MCF-7	breast:
10	chr10:93169300..93170227-chr5:43514707..43515605,2	Hela-S3	cervix:
11	chr10:93168802..93169644-chr11:84197576..84198076,2	Hela-S3	cervix:
12	chr10:93169042..93169793-chr20:42839010..42839640,2	Hela-S3	cervix:
13	chr10:93169232..93170758-chr10:93223754..93225469,2	MCF-7	breast:
14	chr10:93169367..93170145-chr7:6388240..6389220,2	Hela-S3	cervix:
15	chr10:93169304..93170110-chr15:66161337..66161844,2	Hela-S3	cervix:
16	chr10:93168839..93171584-chr10:93557037..93559095,2	K562	blood:

Variant related genes	Relation type
HECTD2	TF binding region
ENSG00000271385	Chromatin interaction
ENSG00000228701	Chromatin interaction
ENSG00000248240	Chromatin interaction
ENSG00000188229	Chromatin interaction
ENSG00000179021	Chromatin interaction
ENSG00000103769	Chromatin interaction
ENSG00000119938	Chromatin interaction
ENSG00000164904	Chromatin interaction
ENSG00000132823	Chromatin interaction
ENSG00000223891	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000178397	Chromatin interaction
ENSG00000107854	Chromatin interaction
ENSG00000085999	Chromatin interaction
ENSG00000177479	Chromatin interaction
ENSG00000213186	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: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	chr10:93168800-93169600	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr10:93168800-93169600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr10:93168800-93169600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr10:93168800-93169600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr10:93168800-93169600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:93168800-93170200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr10:93168800-93170400	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr10:93168800-93170400	Active TSS	Primary T cells from cord blood	blood
22	chr10:93168800-93170400	Active TSS	Adipose Nuclei	Adipose
23	chr10:93168800-93170400	Active TSS	Fetal Muscle Trunk	muscle
24	chr10:93168800-93170400	Active TSS	Pancreas	Pancrea
25	chr10:93168800-93170400	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr10:93168800-93170400	Active TSS	Thymus	Thymus
27	chr10:93168800-93170400	Active TSS	GM12878-XiMat	blood
28	chr10:93168800-93170600	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr10:93168800-93170600	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr10:93168800-93170600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr10:93168800-93170600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:93168800-93170600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr10:93168800-93170600	Active TSS	Fetal Muscle Leg	muscle
34	chr10:93168800-93170600	Active TSS	Fetal Thymus	thymus
35	chr10:93168800-93170800	Active TSS	Brain Substantia Nigra	brain
36	chr10:93168800-93170800	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr10:93168800-93170800	Active TSS	Fetal Intestine Small	intestine
38	chr10:93168800-93170800	Active TSS	Rectal Smooth Muscle	rectum
39	chr10:93168800-93171000	Active TSS	H9 Cell Line	embryonic stem cell
40	chr10:93168800-93171000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr10:93168800-93171000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:93168800-93171000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr10:93168800-93171000	Active TSS	Duodenum Mucosa	Duodenum
44	chr10:93168800-93171000	ZNF genes & repeats	Fetal Brain Male	brain
45	chr10:93168800-93171000	Active TSS	Placenta	Placenta
46	chr10:93168800-93171000	Active TSS	Left Ventricle	heart
47	chr10:93168800-93171000	Active TSS	Hela-S3	cervix
48	chr10:93168800-93171000	Active TSS	HSMMtube	muscle
49	chr10:93168800-93171200	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr10:93168800-93171200	Active TSS	Primary T killer memory cells from peripheral blood	blood

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