Variant report

Variant	rs7084706
Chromosome Location	chr10:43894339-43894340
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:43894003-43894445	HepG2	liver:	n/a	n/a
2	POLR2A	chr10:43888984-43898060	K562	blood:	n/a	n/a
3	RFX5	chr10:43894255-43894612	K562	blood:	n/a	n/a
4	POLR2A	chr10:43894112-43895932	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:43894263-43895515	IMR90	lung:	n/a	n/a
6	POLR2A	chr10:43894127-43894400	ProgFib	skin:	n/a	n/a
7	POLR2A	chr10:43890409-43895371	GM12892	blood:	n/a	n/a
8	POLR2A	chr10:43894007-43895160	K562	blood:	n/a	n/a
9	POLR2A	chr10:43894010-43894349	H1-hESC	embryonic stem cell:	n/a	n/a
10	TEAD4	chr10:43893980-43895520	K562	blood:	n/a	chr10:43895016-43895025
11	POLR2A	chr10:43893999-43894340	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr10:43893253-43895533	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr10:43890420-43895659	GM12892	blood:	n/a	n/a
14	POLR2A	chr10:43893307-43894385	K562	blood:	n/a	n/a
15	POLR2A	chr10:43894070-43896282	HepG2	liver:	n/a	n/a
16	POLR2A	chr10:43889701-43895042	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr10:43894150-43896238	K562	blood:	n/a	n/a
18	POLR2A	chr10:43893291-43895398	GM12891	blood:	n/a	n/a
19	HEY1	chr10:43893376-43894387	K562	blood:	n/a	n/a
20	POLR2A	chr10:43894064-43898053	K562	blood:	n/a	n/a
21	POLR2A	chr10:43894034-43895619	GM12878	blood:	n/a	n/a
22	POLR2A	chr10:43894017-43894434	MCF-7	breast:	n/a	n/a
23	POLR2A	chr10:43878581-43905107	K562	blood:	n/a	n/a
24	CCNT2	chr10:43894103-43894567	K562	blood:	n/a	n/a
25	POLR2A	chr10:43894005-43895326	GM12892	blood:	n/a	n/a
26	POLR2A	chr10:43894073-43895684	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr10:43894065-43895503	HL-60	blood:	n/a	n/a
28	EP300	chr10:43894303-43894599	K562	blood:	n/a	n/a
29	POLR2A	chr10:43893359-43895390	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr10:43893872-43895705	K562	blood:	n/a	n/a
31	POLR2A	chr10:43894170-43895379	GM12878	blood:	n/a	n/a
32	POLR2A	chr10:43894055-43894354	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr10:43893271-43895606	GM12892	blood:	n/a	n/a
34	POLR2A	chr10:43891015-43896319	K562	blood:	n/a	n/a
35	POLR2A	chr10:43888975-43895565	GM12891	blood:	n/a	n/a
36	POLR2A	chr10:43890114-43894667	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr10:43893307-43894362	HepG2	liver:	n/a	n/a
38	POLR2A	chr10:43894101-43899596	HepG2	liver:	n/a	n/a
39	POLR2A	chr10:43893317-43895466	GM12878	blood:	n/a	n/a
40	POLR2A	chr10:43893441-43899649	A549	lung:	n/a	n/a
41	POLR2A	chr10:43893295-43895595	GM12891	blood:	n/a	n/a
42	PML	chr10:43894101-43895732	K562	blood:	n/a	chr10:43894287-43894295 chr10:43895205-43895214
43	POLR2A	chr10:43893330-43895389	GM12891	blood:	n/a	n/a
44	POLR2A	chr10:43893340-43894440	HL-60	blood:	n/a	n/a
45	POLR2A	chr10:43886840-43895529	K562	blood:	n/a	n/a
46	JUND	chr10:43894173-43895378	K562	blood:	n/a	chr10:43895204-43895212
47	TBL1XR1	chr10:43894213-43895397	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43696369..43700743-chr10:43891529..43894634,3	K562	blood:
2	chr10:43887055..43906178-chr10:43946385..43955803,85	K562	blood:

No data

Variant related genes	Relation type
HNRNPF	TF binding region
ENSG00000243660	Chromatin interaction
ENSG00000252532	Chromatin interaction
ENSG00000198915	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11238518	0.83[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238519	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238520	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238531	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238547	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238570	1.00[ASN][1000 genomes]
rs11238575	1.00[CHD][hapmap]
rs11238591	1.00[ASN][1000 genomes]
rs12354765	0.87[AMR][1000 genomes]
rs12356024	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12356570	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12359520	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12359825	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12359980	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[ASN][1000 genomes]
rs17366560	1.00[ASN][1000 genomes]
rs2999237	1.00[CHD][hapmap]
rs3006389	1.00[CHD][hapmap]
rs4646975	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4948720	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56120769	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60163354	1.00[ASN][1000 genomes]
rs61845676	1.00[ASN][1000 genomes]
rs61845680	1.00[ASN][1000 genomes]
rs61845682	1.00[ASN][1000 genomes]
rs61858993	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858995	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859001	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859177	1.00[ASN][1000 genomes]
rs61859178	1.00[ASN][1000 genomes]
rs61859441	1.00[ASN][1000 genomes]
rs61859445	1.00[ASN][1000 genomes]
rs61859998	1.00[ASN][1000 genomes]
rs61860007	1.00[ASN][1000 genomes]
rs61860889	1.00[ASN][1000 genomes]
rs67284218	1.00[ASN][1000 genomes]
rs7073767	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7079012	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7093434	1.00[ASN][1000 genomes]
rs7100846	1.00[ASN][1000 genomes]
rs7900284	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7905073	1.00[ASN][1000 genomes]
rs7906169	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7920408	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv825355	chr10:43890579-43923802	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv825356	chr10:43893080-43946515	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	63 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	chr10:43891600-43894400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr10:43892200-43896600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr10:43892800-43894400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr10:43892800-43894400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr10:43893000-43895400	Enhancers	Pancreas	Pancrea
6	chr10:43893000-43895600	Enhancers	Spleen	Spleen
7	chr10:43893000-43897000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:43893200-43894400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:43893200-43894400	Enhancers	Primary B cells from peripheral blood	blood
10	chr10:43893200-43894400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr10:43893200-43894400	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr10:43893200-43894400	Enhancers	Esophagus	oesophagus
13	chr10:43893200-43894400	Enhancers	Placenta	Placenta
14	chr10:43893200-43894600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:43893200-43895000	Enhancers	Brain Cingulate Gyrus	brain
16	chr10:43893200-43895000	Enhancers	Colonic Mucosa	Colon
17	chr10:43893200-43895000	Enhancers	Colon Smooth Muscle	Colon
18	chr10:43893200-43895000	Enhancers	Left Ventricle	heart
19	chr10:43893200-43895000	Enhancers	Right Atrium	heart
20	chr10:43893200-43895200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:43893200-43895400	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr10:43893200-43895400	Flanking Active TSS	Liver	Liver
23	chr10:43893200-43895600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:43893200-43895600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr10:43893200-43895600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr10:43893200-43895600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr10:43893200-43895600	Enhancers	Small Intestine	intestine
28	chr10:43893200-43898400	Genic enhancers	Hela-S3	cervix
29	chr10:43893200-43901600	Weak transcription	HSMMtube	muscle
30	chr10:43893400-43894400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
31	chr10:43893400-43894400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr10:43893400-43894400	Enhancers	Fetal Stomach	stomach
33	chr10:43893400-43894800	Enhancers	Primary hematopoietic stem cells	blood
34	chr10:43893400-43894800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr10:43893400-43894800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr10:43893400-43895600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr10:43893400-43895600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr10:43893400-43895600	Enhancers	Psoas Muscle	Psoas
39	chr10:43893400-43896200	Transcr. at gene 5' and 3'	Dnd41	blood
40	chr10:43893400-43899800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
41	chr10:43893400-43901400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr10:43893600-43894400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:43893600-43894400	Enhancers	HMEC	breast
44	chr10:43893600-43894600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr10:43893600-43894600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr10:43893600-43894600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr10:43893600-43894600	Enhancers	Fetal Lung	lung
48	chr10:43893600-43894600	Enhancers	Fetal Muscle Leg	muscle
49	chr10:43893600-43894800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr10:43893600-43894800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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