Variant report

Variant	rs142519482
Chromosome Location	chr10:91404127-91404128
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:352)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:352 , 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	ATF3	chr10:91403684-91404223	A549	lung:	n/a	n/a
2	SMC3	chr10:91403946-91404335	K562	blood:	n/a	n/a
3	TAF1	chr10:91403746-91404162	GM12891	blood:	n/a	n/a
4	BHLHE40	chr10:91403636-91404650	K562	blood:	n/a	n/a
5	POLR2A	chr10:91403700-91405389	A549	lung:	n/a	n/a
6	POLR2A	chr10:91403716-91404203	U87	brain:	n/a	n/a
7	POLR2A	chr10:91403400-91405426	ECC-1	luminal epithelium:	n/a	n/a
8	NFIC	chr10:91403355-91404197	HepG2	liver:	n/a	n/a
9	TAF1	chr10:91403621-91404302	MCF-7	breast:	n/a	n/a
10	SP1	chr10:91403364-91404211	HepG2	liver:	n/a	chr10:91403781-91403802 chr10:91403717-91403738
11	MXI1	chr10:91403283-91406204	HepG2	liver:	n/a	n/a
12	CTCF	chr10:91404120-91404270	SK-N-SH_RA	brain:	n/a	n/a
13	POLR2A	chr10:91403586-91405802	K562	blood:	n/a	n/a
14	TAF1	chr10:91403623-91404187	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr10:91403437-91405448	K562	blood:	n/a	n/a
16	POLR2A	chr10:91403723-91404648	HepG2	liver:	n/a	n/a
17	TBL1XR1	chr10:91403257-91404363	K562	blood:	n/a	n/a
18	WRNIP1	chr10:91403584-91404183	GM12878	blood:	n/a	n/a
19	POLR2A	chr10:91403641-91405454	A549	lung:	n/a	n/a
20	YY1	chr10:91403742-91405560	HepG2	liver:	n/a	chr10:91404302-91404316
21	UBTF	chr10:91403448-91405324	K562	blood:	n/a	n/a
22	POLR2A	chr10:91403597-91405490	GM18951	blood:	n/a	n/a
23	TAF1	chr10:91403545-91404483	MCF-7	breast:	n/a	n/a
24	CREB1	chr10:91403583-91405549	GM12878	blood:	n/a	n/a
25	MAX	chr10:91403457-91405754	A549	lung:	n/a	chr10:91405450-91405460
26	POLR2A	chr10:91403303-91404544	HepG2	liver:	n/a	n/a
27	REST	chr10:91403725-91404145	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr10:91403689-91405445	GM18526	blood:	n/a	n/a
29	SMARCB1	chr10:91403699-91405465	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr10:91403587-91405376	HUVEC	blood vessel:	n/a	n/a
31	CHD1	chr10:91403595-91405162	GM12878	blood:	n/a	n/a
32	SP1	chr10:91403414-91404426	HCT-116	colon:	n/a	chr10:91403781-91403802 chr10:91403717-91403738
33	CEBPD	chr10:91403516-91405139	HepG2	liver:	n/a	chr10:91403624-91403635
34	E2F6	chr10:91404081-91404376	K562	blood:	n/a	chr10:91404271-91404281
35	BHLHE40	chr10:91403644-91406106	HepG2	liver:	n/a	n/a
36	FOXA2	chr10:91403384-91404134	HepG2	liver:	n/a	n/a
37	POLR2A	chr10:91403417-91404803	HepG2	liver:	n/a	n/a
38	MAX	chr10:91403560-91405896	K562	blood:	n/a	chr10:91405450-91405460
39	POLR2A	chr10:91403380-91405480	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr10:91403404-91405296	MCF10A-Er-Src	breast:	n/a	n/a
41	TAF1	chr10:91403640-91405360	HepG2	liver:	n/a	n/a
42	RELA	chr10:91403372-91405612	GM15510	blood:	n/a	n/a
43	MAZ	chr10:91403545-91404483	HepG2	liver:	n/a	n/a
44	TBP	chr10:91403154-91404491	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr10:91403300-91406084	HepG2	liver:	n/a	n/a
46	MAX	chr10:91403554-91405711	GM12878	blood:	n/a	chr10:91405450-91405460
47	CHD2	chr10:91403539-91404492	HepG2	liver:	n/a	n/a
48	MBD4	chr10:91403228-91404336	HepG2	liver:	n/a	n/a
49	POLR2A	chr10:91403289-91406020	HepG2	liver:	n/a	n/a
50	NFIC	chr10:91403678-91405640	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:91403635..91406711-chr10:91457604..91462894,9	MCF-7	breast:
2	chr10:91403655..91404330-chr9:130213244..130214014,2	NB4	blood:
3	chr10:91402369..91405488-chr10:91459565..91463449,8	K562	blood:
4	chr10:91371070..91374344-chr10:91402272..91406788,6	MCF-7	breast:
5	chr10:91369955..91372663-chr10:91402410..91404170,2	K562	blood:
6	chr10:91401983..91406312-chr10:91459063..91463449,10	K562	blood:
7	chr10:91402267..91405688-chr10:91407429..91411344,10	K562	blood:
8	chr10:70480750..70481482-chr10:91403808..91404438,2	Hela-S3	cervix:
9	chr10:91403809..91404792-chr4:73935189..73935933,2	NB4	blood:
10	chr10:91403860..91404543-chr17:54991495..54992488,2	Hela-S3	cervix:
11	chr10:91402561..91404356-chr12:56108835..56111046,2	MCF-7	breast:
12	chr10:91403856..91404455-chr19:13263583..13264426,2	Hela-S3	cervix:
13	chr10:91403504..91404306-chr7:91874779..91875485,2	NB4	blood:
14	chr10:91403572..91404172-chr19:49588652..49589213,2	Hela-S3	cervix:
15	chr10:91402715..91410625-chr10:91458897..91464646,18	MCF-7	breast:
16	chr10:91403668..91404273-chr3:186500942..186501784,2	Hela-S3	cervix:
17	chr10:91403863..91404498-chr10:124913819..124914546,2	Hela-S3	cervix:
18	chr10:91403856..91404431-chr16:89988692..89989667,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
PANK1	TF binding region
ENSG00000232936	TF binding region
ENSG00000156976	Chromatin interaction
ENSG00000104852	Chromatin interaction
ENSG00000001631	Chromatin interaction
ENSG00000060339	Chromatin interaction
ENSG00000240996	Chromatin interaction
ENSG00000152782	Chromatin interaction
ENSG00000148356	Chromatin interaction
ENSG00000138182	Chromatin interaction
ENSG00000235100	Chromatin interaction
ENSG00000154473	Chromatin interaction
ENSG00000135441	Chromatin interaction
ENSG00000259006	Chromatin interaction
ENSG00000163626	Chromatin interaction
ENSG00000197958	Chromatin interaction
ENSG00000225836	Chromatin interaction
ENSG00000258311	Chromatin interaction
ENSG00000135424	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3419628	chr10:91403597-91406145	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr10:91401000-91405200	Active TSS	GM12878-XiMat	blood
2	chr10:91401600-91405200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr10:91401600-91405400	Active TSS	Fetal Kidney	kidney
4	chr10:91402000-91405200	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr10:91402000-91405200	Active TSS	Liver	Liver
6	chr10:91402000-91405400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr10:91402000-91405400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr10:91402000-91405800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:91402200-91405200	Active TSS	Fetal Intestine Small	intestine
10	chr10:91402200-91405400	Active TSS	K562	blood
11	chr10:91402400-91405200	Active TSS	HepG2	liver
12	chr10:91402400-91405400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:91402600-91404200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr10:91402600-91405200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:91402600-91405200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr10:91402600-91405400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr10:91402600-91405400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:91402800-91405200	Active TSS	HMEC	breast
19	chr10:91402800-91405200	Active TSS	NHLF	lung
20	chr10:91402800-91405400	Active TSS	Fetal Muscle Leg	muscle
21	chr10:91403000-91404200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr10:91403000-91404200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr10:91403000-91404400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:91403000-91404800	Active TSS	Right Atrium	heart
25	chr10:91403000-91405200	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr10:91403000-91405200	Active TSS	Fetal Intestine Large	intestine
27	chr10:91403000-91405200	Active TSS	Hela-S3	cervix
28	chr10:91403000-91405200	Active TSS	NHDF-Ad	bronchial
29	chr10:91403000-91405400	Active TSS	H9 Cell Line	embryonic stem cell
30	chr10:91403000-91405400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr10:91403000-91405400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:91403000-91405400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr10:91403000-91405400	Active TSS	Brain Germinal Matrix	brain
34	chr10:91403000-91405400	Active TSS	Psoas Muscle	Psoas
35	chr10:91403000-91405400	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr10:91403000-91405600	Active TSS	Fetal Muscle Trunk	muscle
37	chr10:91403000-91405800	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr10:91403200-91404200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr10:91403200-91404200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr10:91403200-91404200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr10:91403200-91404200	Flanking Active TSS	HUVEC	blood vessel
42	chr10:91403200-91404200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr10:91403200-91404600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr10:91403200-91405200	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr10:91403200-91405200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:91403200-91405200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr10:91403200-91405200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr10:91403200-91405200	Active TSS	Brain Substantia Nigra	brain
49	chr10:91403200-91405200	Active TSS	Colonic Mucosa	Colon
50	chr10:91403200-91405200	Active TSS	Placenta	Placenta

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