Variant report

Variant	rs11011382
Chromosome Location	chr10:38147460-38147461
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:38145905-38147542	GM12892	blood:	n/a	n/a
2	POLR2A	chr10:38145896-38147504	GM18951	blood:	n/a	n/a
3	POLR2A	chr10:38145726-38147548	HepG2	liver:	n/a	n/a
4	POLR2A	chr10:38145961-38147761	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:38145844-38147891	K562	blood:	n/a	n/a
6	POLR2A	chr10:38146176-38147467	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr10:38146217-38147542	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr10:38145979-38147820	IMR90	lung:	n/a	n/a
9	POLR2A	chr10:38146293-38147553	GM12891	blood:	n/a	n/a
10	POLR2A	chr10:38146337-38147565	GM12892	blood:	n/a	n/a
11	POLR2A	chr10:38146296-38147470	HCT-116	colon:	n/a	n/a
12	POLR2A	chr10:38146205-38147799	GM12878	blood:	n/a	n/a
13	POLR2A	chr10:38146234-38147779	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr10:38146202-38147490	MCF-7	breast:	n/a	n/a
15	POLR2A	chr10:38145871-38147514	GM19099	blood:	n/a	n/a
16	POLR2A	chr10:38146296-38147521	GM12891	blood:	n/a	n/a
17	POLR2A	chr10:38145869-38147676	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr10:38145664-38147522	GM12891	blood:	n/a	n/a
19	MXI1	chr10:38145207-38147932	SK-N-SH	brain:	n/a	n/a
20	MAX	chr10:38145976-38147539	A549	lung:	n/a	chr10:38146617-38146633
21	MXI1	chr10:38145819-38147816	IMR90	lung:	n/a	n/a
22	MAFF	chr10:38147331-38147478	K562	blood:	n/a	n/a
23	POLR2A	chr10:38146312-38147521	GM12891	blood:	n/a	n/a
24	HCFC1	chr10:38146047-38147583	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr10:38145848-38147463	K562	blood:	n/a	n/a
26	POLR2A	chr10:38146112-38147535	GM12878	blood:	n/a	n/a
27	POLR2A	chr10:38145956-38147782	HepG2	liver:	n/a	n/a
28	POLR2A	chr10:38145800-38147552	GM12878	blood:	n/a	n/a
29	POLR2A	chr10:38145977-38147756	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr10:38146257-38147490	SK-N-SH	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:38119569..38121189-chr10:38145461..38148334,3	MCF-7	breast:
2	chr10:38123782..38128970-chr10:38145175..38149505,4	MCF-7	breast:
3	chr10:38044279..38047171-chr10:38147143..38150135,2	MCF-7	breast:
4	chr10:38145904..38148087-chr9:86593901..86595485,2	MCF-7	breast:
5	chr10:38144757..38148220-chr10:38264242..38266228,3	MCF-7	breast:
6	chr10:38145545..38147887-chr10:38265015..38266536,2	MCF-7	breast:
7	chr10:38145553..38148128-chr10:38264831..38267581,3	K562	blood:
8	chr10:38125960..38130211-chr10:38145750..38148095,4	MCF-7	breast:
9	chr10:38145480..38148192-chr10:38381964..38384579,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF33A-2	chr10:38146668-38147460	ENSG00000236514.1

No data

Variant related genes	Relation type
ZNF248	TF binding region
ENSG00000075407	Chromatin interaction
ENSG00000175395	Chromatin interaction
ENSG00000198105	Chromatin interaction
ENSG00000226447	Chromatin interaction
ENSG00000266800	Chromatin interaction
ENSG00000165119	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11011352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11011413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11011433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12355396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12356268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12356594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35867298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38144000-38147600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr10:38144200-38147600	Active TSS	Right Atrium	heart
3	chr10:38144400-38147600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:38144400-38147800	Active TSS	NH-A	brain
5	chr10:38144600-38147600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr10:38144600-38147600	Active TSS	Psoas Muscle	Psoas
7	chr10:38144600-38147600	Active TSS	A549	lung
8	chr10:38144800-38147600	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr10:38144800-38147600	Active TSS	Brain Germinal Matrix	brain
10	chr10:38144800-38147800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr10:38144800-38147800	Active TSS	Brain Anterior Caudate	brain
12	chr10:38144800-38147800	Active TSS	NHLF	lung
13	chr10:38145200-38147600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr10:38145200-38147600	Active TSS	Aorta	Aorta
15	chr10:38145400-38147600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr10:38145400-38147600	Active TSS	Fetal Intestine Large	intestine
17	chr10:38145400-38147600	Active TSS	HSMMtube	muscle
18	chr10:38145400-38147600	Active TSS	NHDF-Ad	bronchial
19	chr10:38145400-38149400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr10:38145600-38147600	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr10:38145600-38147600	Active TSS	Fetal Intestine Small	intestine
22	chr10:38145600-38147600	Active TSS	Fetal Muscle Trunk	muscle
23	chr10:38145800-38147600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr10:38146000-38147600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr10:38146200-38147600	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr10:38146400-38147600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr10:38146400-38147600	Active TSS	Fetal Brain Female	brain
28	chr10:38146800-38147600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:38146800-38147600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr10:38147000-38147600	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr10:38147000-38147600	Active TSS	Fetal Brain Male	brain
32	chr10:38147000-38147600	Flanking Active TSS	HMEC	breast
33	chr10:38147200-38147600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr10:38147200-38147600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr10:38147200-38147600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr10:38147200-38147600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr10:38147200-38147600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr10:38147200-38147600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr10:38147200-38147600	Flanking Active TSS	Liver	Liver
40	chr10:38147200-38147600	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr10:38147200-38147600	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr10:38147200-38147600	Flanking Active TSS	Brain Substantia Nigra	brain
43	chr10:38147200-38147600	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr10:38147200-38147600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr10:38147200-38147600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr10:38147200-38147600	Flanking Active TSS	Fetal Heart	heart
47	chr10:38147200-38147600	Flanking Active TSS	Fetal Kidney	kidney
48	chr10:38147200-38147600	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr10:38147200-38147600	Flanking Active TSS	Fetal Stomach	stomach
50	chr10:38147200-38147600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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