Variant report

Variant	rs35039203
Chromosome Location	chr17:17204715-17204716
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr17:17203977-17205025	A549	lung:	n/a	n/a
2	POLR2A	chr17:17204695-17204908	H1-hESC	embryonic stem cell:	n/a	n/a
3	ELF1	chr17:17203915-17204839	GM12878	blood:	n/a	n/a
4	SIN3A	chr17:17204055-17204897	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr17:17203997-17204900	A549	lung:	n/a	n/a
6	MAX	chr17:17203957-17205100	A549	lung:	n/a	n/a
7	MXI1	chr17:17204037-17204856	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF1	chr17:17203937-17205076	H1-hESC	embryonic stem cell:	n/a	n/a
9	TEAD4	chr17:17204113-17204795	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD1	chr17:17204372-17204793	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr17:17203885-17205194	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr17:17204111-17204915	A549	lung:	n/a	n/a
13	TAF1	chr17:17204492-17204914	H1-hESC	embryonic stem cell:	n/a	n/a
14	KAP1	chr17:17204148-17205000	U2OS	brain:	n/a	n/a
15	POLR2A	chr17:17204017-17204934	Raji	blood:	n/a	n/a
16	YY1	chr17:17204030-17204894	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr17:17204333-17204992	PANC-1	pancreas:	n/a	n/a
18	TAF1	chr17:17203999-17205017	A549	lung:	n/a	n/a
19	POLR2A	chr17:17204148-17205049	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr17:17204291-17204995	PANC-1	pancreas:	n/a	n/a
21	E2F6	chr17:17203964-17204906	A549	lung:	n/a	n/a
22	KAP1	chr17:17204057-17205008	HEK293	kidney:	n/a	n/a
23	SP4	chr17:17204325-17204885	H1-hESC	embryonic stem cell:	n/a	n/a
24	SP4	chr17:17204076-17204729	H1-hESC	embryonic stem cell:	n/a	n/a
25	REST	chr17:17203912-17204991	A549	lung:	n/a	n/a
26	TEAD4	chr17:17204280-17204760	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr17:17204356-17205000	H1-hESC	embryonic stem cell:	n/a	n/a
28	YY1	chr17:17203997-17204993	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr17:17204018-17204999	HEK293	kidney:	n/a	n/a
30	TBP	chr17:17203979-17204960	H1-hESC	embryonic stem cell:	n/a	n/a
31	SP1	chr17:17203975-17204986	A549	lung:	n/a	n/a
32	POLR2A	chr17:17204379-17204977	H1-hESC	embryonic stem cell:	n/a	n/a
33	SP1	chr17:17203973-17205022	H1-hESC	embryonic stem cell:	n/a	n/a
34	SP1	chr17:17203884-17204999	A549	lung:	n/a	n/a
35	ZNF143	chr17:17204152-17204792	H1-hESC	embryonic stem cell:	n/a	n/a
36	SIX5	chr17:17204004-17205007	A549	lung:	n/a	chr17:17204094-17204103 chr17:17204081-17204090
37	POLR2A	chr17:17204713-17204846	A549	lung:	n/a	n/a
38	POLR2A	chr17:17204099-17204880	A549	lung:	n/a	n/a
39	GTF2F1	chr17:17204690-17204905	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr17:17203951-17204928	A549	lung:	n/a	n/a
41	TCF12	chr17:17203765-17205128	A549	lung:	n/a	n/a
42	MAX	chr17:17203971-17204948	A549	lung:	n/a	n/a
43	BCL3	chr17:17204036-17204829	A549	lung:	n/a	n/a
44	USF1	chr17:17204525-17204816	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr17:17204338-17204834	A549	lung:	n/a	n/a
46	YY1	chr17:17203961-17204894	A549	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17183059..17186537-chr17:17204352..17209458,5	K562	blood:
2	chr17:17182421..17186483-chr17:17204152..17209830,5	MCF-7	breast:
3	chr17:17181690..17186423-chr17:17204352..17210529,13	K562	blood:

No data

Variant related genes	Relation type
NT5M	TF binding region
ENSG00000141030	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11654778	1.00[ASN][1000 genomes]
rs11869409	1.00[ASN][1000 genomes]
rs12939857	1.00[AFR][1000 genomes]
rs12941075	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12948357	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12951281	1.00[ASN][1000 genomes]
rs34121330	1.00[ASN][1000 genomes]
rs34235236	1.00[ASN][1000 genomes]
rs34668117	1.00[ASN][1000 genomes]
rs35554631	1.00[ASN][1000 genomes]
rs41323249	1.00[ASN][1000 genomes]
rs41340844	1.00[ASN][1000 genomes]
rs41400246	1.00[ASN][1000 genomes]
rs41424546	1.00[ASN][1000 genomes]
rs41525346	1.00[ASN][1000 genomes]
rs55836267	1.00[ASN][1000 genomes]
rs67632718	1.00[ASN][1000 genomes]
rs7224172	1.00[ASN][1000 genomes]
rs73300362	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8082383	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9891799	0.86[EUR][1000 genomes]
rs9913682	0.91[AMR][1000 genomes];0.88[EUR][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	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	esv33859	chr17:17189904-17208157	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv1061186	chr17:17200427-17314406	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17200400-17206000	Weak transcription	NHEK	skin
2	chr17:17202000-17206400	Weak transcription	HSMM	muscle
3	chr17:17203400-17204800	Active TSS	H1 Cell Line	embryonic stem cell
4	chr17:17203400-17205200	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr17:17203400-17205200	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr17:17203400-17207000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr17:17203600-17204800	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr17:17203600-17204800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr17:17203600-17205000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:17203600-17205200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr17:17203600-17205200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr17:17203600-17205200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr17:17203600-17205200	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr17:17203600-17207000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr17:17203800-17204800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:17203800-17204800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr17:17203800-17205000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr17:17203800-17205000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr17:17203800-17205000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr17:17203800-17205200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr17:17204000-17205000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr17:17204200-17204800	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr17:17204200-17204800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr17:17204200-17204800	Flanking Active TSS	Liver	Liver
25	chr17:17204200-17204800	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr17:17204200-17204800	Enhancers	Spleen	Spleen
27	chr17:17204200-17205000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr17:17204200-17205000	Active TSS	Fetal Kidney	kidney
29	chr17:17204200-17205200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr17:17204400-17204800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
31	chr17:17204400-17206000	Weak transcription	Primary T cells from cord blood	blood
32	chr17:17204400-17206000	Weak transcription	Fetal Lung	lung
33	chr17:17204400-17206200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr17:17204400-17206200	Weak transcription	NHLF	lung
35	chr17:17204600-17204800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:17204600-17204800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:17204600-17204800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr17:17204600-17204800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr17:17204600-17204800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr17:17204600-17204800	Enhancers	Primary B cells from cord blood	blood
41	chr17:17204600-17204800	Enhancers	Primary B cells from peripheral blood	blood
42	chr17:17204600-17204800	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr17:17204600-17204800	Enhancers	Brain Cingulate Gyrus	brain
44	chr17:17204600-17204800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr17:17204600-17204800	Enhancers	Colon Smooth Muscle	Colon
46	chr17:17204600-17204800	Enhancers	Fetal Intestine Small	intestine
47	chr17:17204600-17204800	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr17:17204600-17204800	Enhancers	Fetal Muscle Leg	muscle
49	chr17:17204600-17205000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr17:17204600-17205000	Enhancers	Primary monocytes fromperipheralblood	blood

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