Variant report

Variant	rs9893676
Chromosome Location	chr17:17054951-17054952
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr17:17054354-17055936	IMR90	lung:	n/a	n/a
2	FOS	chr17:17054314-17055622	MCF10A-Er-Src	breast:	n/a	chr17:17054557-17054568 chr17:17055456-17055464 chr17:17055454-17055466
3	POLR2A	chr17:17054251-17056310	U87	brain:	n/a	n/a
4	E2F6	chr17:17054486-17055767	A549	lung:	n/a	n/a
5	MAFK	chr17:17054847-17055604	IMR90	lung:	n/a	n/a
6	MYC	chr17:17054365-17055113	MCF10A-Er-Src	breast:	n/a	n/a
7	MAX	chr17:17054356-17056071	A549	lung:	n/a	n/a
8	RCOR1	chr17:17053116-17056514	IMR90	lung:	n/a	n/a
9	MAX	chr17:17054349-17055118	SK-N-SH	brain:	n/a	n/a
10	GATA3	chr17:17054211-17055808	SK-N-SH	brain:	n/a	n/a
11	MAX	chr17:17054331-17055144	SK-N-SH	brain:	n/a	n/a
12	NFIC	chr17:17054732-17056351	ECC-1	luminal epithelium:	n/a	n/a
13	FOSL2	chr17:17054276-17055745	A549	lung:	n/a	chr17:17055456-17055464 chr17:17055454-17055466
14	E2F4	chr17:17054824-17054954	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr17:17054599-17056052	A549	lung:	n/a	n/a
16	EP300	chr17:17054341-17055931	SK-N-SH	brain:	n/a	n/a
17	PBX3	chr17:17054338-17055776	SK-N-SH	brain:	n/a	n/a
18	EP300	chr17:17054742-17055863	SK-N-SH	brain:	n/a	n/a
19	TEAD4	chr17:17054307-17055791	SK-N-SH	brain:	n/a	n/a
20	TCF12	chr17:17054159-17056289	SK-N-SH	brain:	n/a	chr17:17056242-17056250
21	NR3C1	chr17:17054449-17056189	A549	lung:	n/a	chr17:17055455-17055464 chr17:17055880-17055887
22	FOS	chr17:17054313-17055735	HUVEC	blood vessel:	n/a	chr17:17054557-17054568 chr17:17055456-17055464 chr17:17055454-17055466
23	GATA3	chr17:17054209-17056237	A549	lung:	n/a	chr17:17056215-17056222
24	POLR2A	chr17:17054245-17056704	U87	brain:	n/a	n/a
25	NFIC	chr17:17054211-17056473	SK-N-SH	brain:	n/a	n/a
26	NFIC	chr17:17054788-17056207	SK-N-SH	brain:	n/a	n/a
27	JUND	chr17:17054137-17056177	SK-N-SH	brain:	n/a	chr17:17055905-17055916 chr17:17055456-17055464 chr17:17055454-17055466
28	FOSL2	chr17:17054159-17055845	SK-N-SH	brain:	n/a	chr17:17055456-17055464 chr17:17055454-17055466
29	EP300	chr17:17054734-17055825	A549	lung:	n/a	n/a
30	POLR2A	chr17:17054275-17056087	U87	brain:	n/a	n/a
31	PBX3	chr17:17054859-17056198	SK-N-SH	brain:	n/a	n/a
32	MAX	chr17:17054347-17056241	A549	lung:	n/a	chr17:17056187-17056197
33	RXRA	chr17:17054279-17055839	SK-N-SH	brain:	n/a	n/a
34	TCF12	chr17:17054351-17055889	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr17:17054299-17056087	U87	brain:	n/a	n/a
36	JUND	chr17:17054276-17055794	SK-N-SH	brain:	n/a	chr17:17055456-17055464 chr17:17055454-17055466
37	POLR2A	chr17:17054849-17055174	SK-N-SH	brain:	n/a	n/a
38	STAT3	chr17:17054358-17055590	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr17:17054314-17055641	MCF10A-Er-Src	breast:	n/a	chr17:17054557-17054568 chr17:17055456-17055464 chr17:17055454-17055466
40	TCF12	chr17:17054402-17056060	A549	lung:	n/a	n/a
41	SP1	chr17:17054679-17056007	A549	lung:	n/a	chr17:17055570-17055580
42	POLR2A	chr17:17054247-17055663	HUVEC	blood vessel:	n/a	n/a
43	STAT3	chr17:17054371-17055077	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr17:17054327-17055646	MCF10A-Er-Src	breast:	n/a	chr17:17054557-17054568 chr17:17055456-17055464 chr17:17055454-17055466

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17053885..17056874-chr17:17067552..17069727,2	K562	blood:

Variant related genes	Relation type
MPRIP	TF binding region
ENSG00000133030	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1047799	0.91[ASN][1000 genomes]
rs1047805	0.91[ASN][1000 genomes]
rs10852844	0.87[ASN][1000 genomes]
rs10852846	0.98[ASN][1000 genomes]
rs11078368	0.85[ASN][1000 genomes]
rs11078371	0.85[ASN][1000 genomes]
rs11078372	0.87[ASN][1000 genomes]
rs11078373	0.96[ASN][1000 genomes]
rs1110505	0.94[ASN][1000 genomes]
rs11551189	1.00[ASN][1000 genomes]
rs11651938	0.96[ASN][1000 genomes]
rs11652678	0.96[ASN][1000 genomes]
rs11654887	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11657189	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11870035	0.98[ASN][1000 genomes]
rs11870483	0.89[ASN][1000 genomes]
rs12451343	0.83[ASN][1000 genomes]
rs12602583	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12602592	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12602839	0.85[ASN][1000 genomes]
rs12603417	0.85[ASN][1000 genomes]
rs1567815	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17794784	0.97[ASN][1000 genomes]
rs2292526	0.96[ASN][1000 genomes]
rs2292530	0.97[ASN][1000 genomes]
rs2349645	0.98[ASN][1000 genomes]
rs2349648	0.89[ASN][1000 genomes]
rs28452405	0.87[ASN][1000 genomes]
rs34001712	0.87[ASN][1000 genomes]
rs34976658	0.94[ASN][1000 genomes]
rs35650871	0.84[ASN][1000 genomes]
rs3744125	0.91[ASN][1000 genomes]
rs3744127	0.91[ASN][1000 genomes]
rs3744131	1.00[ASN][1000 genomes]
rs3744132	0.97[ASN][1000 genomes]
rs3744134	0.97[ASN][1000 genomes]
rs3744136	0.96[ASN][1000 genomes]
rs3744137	0.98[ASN][1000 genomes]
rs3744138	0.98[ASN][1000 genomes]
rs3744139	0.98[ASN][1000 genomes]
rs3826305	0.90[ASN][1000 genomes]
rs4073688	0.82[ASN][1000 genomes]
rs4074612	0.85[ASN][1000 genomes]
rs4074819	0.96[ASN][1000 genomes]
rs4283273	0.91[ASN][1000 genomes]
rs4321246	0.96[ASN][1000 genomes]
rs4629023	0.85[ASN][1000 genomes]
rs4985703	0.96[ASN][1000 genomes]
rs4985704	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4985716	0.82[ASN][1000 genomes]
rs4985721	0.87[ASN][1000 genomes]
rs4985728	0.85[ASN][1000 genomes]
rs4985730	0.89[ASN][1000 genomes]
rs4985737	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4985741	0.94[ASN][1000 genomes]
rs4985742	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4985743	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4985745	0.94[ASN][1000 genomes]
rs56133536	0.98[ASN][1000 genomes]
rs57729820	0.81[ASN][1000 genomes]
rs58326998	0.98[ASN][1000 genomes]
rs59394251	0.98[ASN][1000 genomes]
rs60128647	0.85[ASN][1000 genomes]
rs61242604	0.81[ASN][1000 genomes]
rs7211576	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7212275	0.80[ASN][1000 genomes]
rs7214429	1.00[ASN][1000 genomes]
rs7216677	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs73979060	0.85[ASN][1000 genomes]
rs73979078	0.85[ASN][1000 genomes]
rs8066111	0.93[ASN][1000 genomes]
rs8066234	0.94[ASN][1000 genomes]
rs8069259	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8071254	0.81[ASN][1000 genomes]
rs8077360	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9895060	0.84[ASN][1000 genomes]
rs9897510	1.00[ASN][1000 genomes]
rs9906028	0.84[ASN][1000 genomes]
rs9907109	0.86[ASN][1000 genomes]
rs9910857	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907728	chr17:17013189-17095487	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv524958	chr17:17029718-17060805	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17029800-17088400	Strong transcription	Dnd41	blood
2	chr17:17030000-17088000	Strong transcription	Duodenum Mucosa	Duodenum
3	chr17:17030200-17055000	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr17:17030400-17055800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr17:17030400-17059800	Strong transcription	Fetal Intestine Small	intestine
6	chr17:17030400-17079200	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:17030400-17089200	Strong transcription	Fetal Intestine Large	intestine
8	chr17:17031000-17078800	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr17:17031200-17057200	Strong transcription	Primary T cells from cord blood	blood
10	chr17:17031200-17067800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr17:17032000-17055000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr17:17032000-17073800	Strong transcription	Fetal Lung	lung
13	chr17:17032200-17073600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:17034800-17072800	Strong transcription	Placenta Amnion	Placenta Amnion
15	chr17:17037200-17074200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:17038400-17093800	Strong transcription	Fetal Brain Female	brain
17	chr17:17038800-17058400	Weak transcription	Fetal Brain Male	brain
18	chr17:17043000-17055200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr17:17044200-17083600	Strong transcription	Thymus	Thymus
20	chr17:17045000-17088400	Strong transcription	Brain Germinal Matrix	brain
21	chr17:17045200-17055800	Strong transcription	Fetal Thymus	thymus
22	chr17:17045200-17071600	Strong transcription	Primary B cells from cord blood	blood
23	chr17:17045200-17075600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr17:17045200-17093800	Strong transcription	Fetal Stomach	stomach
25	chr17:17045600-17071000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr17:17045600-17072800	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr17:17045800-17055000	Strong transcription	Ovary	ovary
28	chr17:17045800-17059200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr17:17045800-17065600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr17:17046000-17059800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr17:17047400-17056600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr17:17047400-17059400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr17:17047600-17066200	Weak transcription	K562	blood
34	chr17:17048600-17055400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr17:17050400-17073800	Strong transcription	Fetal Muscle Leg	muscle
36	chr17:17050800-17057200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr17:17051000-17093200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr17:17051400-17055000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr17:17051600-17055800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr17:17051800-17056400	Weak transcription	Fetal Kidney	kidney
41	chr17:17052400-17056800	Genic enhancers	HSMM	muscle
42	chr17:17053000-17078000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr17:17053200-17055200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr17:17053200-17055400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr17:17053200-17055600	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr17:17053200-17055600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr17:17053200-17055600	Strong transcription	Colonic Mucosa	Colon
48	chr17:17053200-17056400	Genic enhancers	HSMMtube	muscle
49	chr17:17053200-17056600	Genic enhancers	Left Ventricle	heart
50	chr17:17053200-17060600	Genic enhancers	NHEK	skin

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