Variant report

Variant	rs543318842
Chromosome Location	chr10:5734648-5734649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:193)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:193 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:5734500-5735320	HepG2	liver:	n/a	n/a
2	PAX5	chr10:5734526-5734933	GM12892	blood:	n/a	n/a
3	EGR1	chr10:5734581-5735067	K562	blood:	n/a	n/a
4	REST	chr10:5734542-5735142	HepG2	liver:	n/a	chr10:5734939-5734952 chr10:5734834-5734847 chr10:5734939-5734952 chr10:5734981-5734988 chr10:5734832-5734850
5	FOXA1	chr10:5734385-5735401	HepG2	liver:	n/a	n/a
6	USF2	chr10:5734407-5735053	GM12878	blood:	n/a	n/a
7	CREB1	chr10:5734173-5735056	H1-hESC	embryonic stem cell:	n/a	n/a
8	RELA	chr10:5734439-5735341	GM15510	blood:	n/a	n/a
9	TRIM28	chr10:5734377-5735193	K562	blood:	n/a	n/a
10	FOXA2	chr10:5734532-5734920	HepG2	liver:	n/a	n/a
11	CHD2	chr10:5734434-5735038	H1-hESC	embryonic stem cell:	n/a	n/a
12	MYBL2	chr10:5734474-5735152	HepG2	liver:	n/a	n/a
13	TCF7L2	chr10:5733831-5735242	HEK293	kidney:	n/a	n/a
14	POLR2A	chr10:5734361-5735228	GM19193	blood:	n/a	n/a
15	MXI1	chr10:5734463-5735349	HepG2	liver:	n/a	n/a
16	TBP	chr10:5734531-5735441	GM12878	blood:	n/a	n/a
17	POU2F2	chr10:5734611-5735011	GM12891	blood:	n/a	n/a
18	FOXM1	chr10:5734405-5735056	GM12878	blood:	n/a	n/a
19	BCLAF1	chr10:5734492-5735055	GM12878	blood:	n/a	chr10:5734833-5734846
20	MYBL2	chr10:5734362-5735422	HepG2	liver:	n/a	n/a
21	POLR2A	chr10:5734375-5735157	GM15510	blood:	n/a	n/a
22	CREB1	chr10:5734446-5735187	K562	blood:	n/a	n/a
23	RUNX3	chr10:5734260-5735809	GM12878	blood:	n/a	chr10:5735613-5735622 chr10:5735613-5735622
24	HDAC2	chr10:5734559-5735395	HepG2	liver:	n/a	n/a
25	YY1	chr10:5734518-5734824	GM12892	blood:	n/a	n/a
26	TAF1	chr10:5734570-5735097	K562	blood:	n/a	n/a
27	TAF1	chr10:5734638-5734972	H1-hESC	embryonic stem cell:	n/a	n/a
28	NRF1	chr10:5734633-5735001	GM12878	blood:	n/a	n/a
29	WRNIP1	chr10:5734325-5735700	GM12878	blood:	n/a	n/a
30	MYC	chr10:5734634-5735072	K562	blood:	n/a	n/a
31	HMGN3	chr10:5734418-5735031	K562	blood:	n/a	n/a
32	POLR2A	chr10:5734371-5735184	GM12878	blood:	n/a	n/a
33	MXI1	chr10:5734118-5735896	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr10:5734517-5735240	HepG2	liver:	n/a	n/a
35	SMC3	chr10:5734381-5734969	K562	blood:	n/a	n/a
36	E2F4	chr10:5734558-5734947	GM12878	blood:	n/a	n/a
37	ATF3	chr10:5734574-5734857	K562	blood:	n/a	n/a
38	POLR2A	chr10:5734336-5735274	K562	blood:	n/a	n/a
39	CHD2	chr10:5734493-5735185	GM12878	blood:	n/a	n/a
40	E2F6	chr10:5734397-5735120	K562	blood:	n/a	chr10:5734812-5734823
41	MAZ	chr10:5734328-5735060	IMR90	lung:	n/a	n/a
42	SIN3A	chr10:5734271-5735292	GM12878	blood:	n/a	chr10:5734831-5734844
43	HEY1	chr10:5734474-5735335	HepG2	liver:	n/a	n/a
44	EP300	chr10:5734598-5734944	GM12878	blood:	n/a	chr10:5734697-5734713
45	CREB1	chr10:5734334-5734920	A549	lung:	n/a	n/a
46	HDAC2	chr10:5734336-5735382	HepG2	liver:	n/a	n/a
47	MYC	chr10:5734645-5735078	HepG2	liver:	n/a	n/a
48	RELA	chr10:5734481-5735299	GM19193	blood:	n/a	n/a
49	FOXA1	chr10:5734462-5734986	HepG2	liver:	n/a	n/a
50	NR2F2	chr10:5734532-5735386	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5733731..5736743-chr10:5750015..5755601,4	MCF-7	breast:
2	chr10:5487726..5489985-chr10:5734513..5736734,2	K562	blood:
3	chr10:5726775..5729176-chr10:5734287..5736106,2	MCF-7	breast:
4	chr10:5706961..5708705-chr10:5733482..5736246,2	K562	blood:
5	chr10:5487726..5489985-chr10:5734513..5736734,3	K562	blood:
6	chr10:5732056..5734929-chr10:5855542..5857938,2	K562	blood:
7	chr10:5731846..5734735-chr10:5789579..5792999,3	K562	blood:
8	chr10:5733787..5736575-chr10:5751182..5753712,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM208B	TF binding region
ENSG00000272764	Chromatin interaction
ENSG00000057608	Chromatin interaction
ENSG00000108021	Chromatin interaction
ENSG00000173848	Chromatin interaction
ENSG00000196372	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv549895	chr10:5712310-5735648	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1796213	chr10:5716555-5766165	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv522415	chr10:5721653-5768493	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
9	nsv8600	chr10:5733691-5736727	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5728800-5746800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr10:5733600-5735400	Flanking Active TSS	NHEK	skin
3	chr10:5733800-5734800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr10:5733800-5734800	Enhancers	Spleen	Spleen
5	chr10:5733800-5735400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr10:5733800-5735400	Bivalent Enhancer	Fetal Brain Male	brain
7	chr10:5733800-5735600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr10:5734000-5734800	Active TSS	GM12878-XiMat	blood
9	chr10:5734000-5735000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr10:5734000-5735000	Active TSS	H1 Cell Line	embryonic stem cell
11	chr10:5734000-5735000	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr10:5734000-5735000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr10:5734000-5735000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr10:5734000-5735000	Active TSS	Rectal Smooth Muscle	rectum
15	chr10:5734000-5735000	Active TSS	A549	lung
16	chr10:5734000-5735000	Active TSS	K562	blood
17	chr10:5734000-5735200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr10:5734000-5735400	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr10:5734000-5735400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr10:5734000-5735400	Active TSS	HepG2	liver
21	chr10:5734000-5735400	Flanking Active TSS	HMEC	breast
22	chr10:5734200-5734800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:5734200-5734800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:5734200-5734800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
25	chr10:5734200-5735000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr10:5734200-5735000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr10:5734200-5735000	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr10:5734200-5735000	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr10:5734200-5735000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr10:5734200-5735000	Active TSS	Brain Angular Gyrus	brain
31	chr10:5734200-5735000	Active TSS	Brain Cingulate Gyrus	brain
32	chr10:5734200-5735000	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr10:5734200-5735000	Active TSS	Ovary	ovary
34	chr10:5734200-5735000	Active TSS	Right Ventricle	heart
35	chr10:5734200-5735200	Active TSS	H9 Cell Line	embryonic stem cell
36	chr10:5734200-5735200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr10:5734200-5735200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:5734200-5735200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr10:5734200-5735200	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr10:5734200-5735200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr10:5734200-5735200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr10:5734200-5735200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr10:5734200-5735200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr10:5734200-5735200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr10:5734200-5735200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr10:5734200-5735200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr10:5734200-5735200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr10:5734200-5735200	Flanking Active TSS	Fetal Thymus	thymus
49	chr10:5734200-5735200	Flanking Active TSS	Thymus	Thymus
50	chr10:5734200-5735200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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