Variant report

Variant	rs7225977
Chromosome Location	chr17:17055102-17055103
allele	A/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	EP300	chr17:17054599-17056052	A549	lung:	n/a	n/a
15	EP300	chr17:17054341-17055931	SK-N-SH	brain:	n/a	n/a
16	PBX3	chr17:17054338-17055776	SK-N-SH	brain:	n/a	n/a
17	EP300	chr17:17054742-17055863	SK-N-SH	brain:	n/a	n/a
18	TEAD4	chr17:17054307-17055791	SK-N-SH	brain:	n/a	n/a
19	TCF12	chr17:17054159-17056289	SK-N-SH	brain:	n/a	chr17:17056242-17056250
20	NR3C1	chr17:17054449-17056189	A549	lung:	n/a	chr17:17055455-17055464 chr17:17055880-17055887
21	FOS	chr17:17054313-17055735	HUVEC	blood vessel:	n/a	chr17:17054557-17054568 chr17:17055456-17055464 chr17:17055454-17055466
22	GATA3	chr17:17054209-17056237	A549	lung:	n/a	chr17:17056215-17056222
23	POLR2A	chr17:17054245-17056704	U87	brain:	n/a	n/a
24	NFIC	chr17:17054211-17056473	SK-N-SH	brain:	n/a	n/a
25	NFIC	chr17:17054788-17056207	SK-N-SH	brain:	n/a	n/a
26	JUND	chr17:17054137-17056177	SK-N-SH	brain:	n/a	chr17:17055905-17055916 chr17:17055456-17055464 chr17:17055454-17055466
27	FOS	chr17:17054996-17055616	MCF10A-Er-Src	breast:	n/a	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	TEAD4	chr17:17054990-17055721	SK-N-SH	brain:	n/a	n/a
37	JUND	chr17:17054276-17055794	SK-N-SH	brain:	n/a	chr17:17055456-17055464 chr17:17055454-17055466
38	POLR2A	chr17:17054849-17055174	SK-N-SH	brain:	n/a	n/a
39	STAT3	chr17:17054358-17055590	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr17:17054314-17055641	MCF10A-Er-Src	breast:	n/a	chr17:17054557-17054568 chr17:17055456-17055464 chr17:17055454-17055466
41	TCF12	chr17:17054402-17056060	A549	lung:	n/a	n/a
42	SP1	chr17:17054679-17056007	A549	lung:	n/a	chr17:17055570-17055580
43	POLR2A	chr17:17054247-17055663	HUVEC	blood vessel:	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: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11867273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11867522	1.00[CEU][hapmap]
rs11867723	1.00[EUR][1000 genomes]
rs11868052	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11868102	1.00[EUR][1000 genomes]
rs11868191	1.00[EUR][1000 genomes]
rs11868392	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11868908	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11869283	1.00[CEU][hapmap]
rs11869415	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11869423	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11870335	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11870441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11870488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11871120	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57958042	1.00[EUR][1000 genomes]
rs61729732	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6502556	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6502558	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6502559	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6502560	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7207396	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7209447	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7211205	1.00[EUR][1000 genomes]
rs7213477	1.00[EUR][1000 genomes]
rs7215338	1.00[EUR][1000 genomes]
rs7215588	1.00[EUR][1000 genomes]
rs7216705	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7220492	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7221151	1.00[EUR][1000 genomes]
rs7223773	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7225532	1.00[EUR][1000 genomes]
rs8064296	1.00[EUR][1000 genomes]
rs8065260	1.00[EUR][1000 genomes]
rs8066280	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8067672	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8067959	1.00[EUR][1000 genomes]
rs8068587	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8070944	1.00[EUR][1000 genomes]
rs8073346	1.00[CEU][hapmap]
rs8075194	1.00[CEU][hapmap]
rs8078661	1.00[EUR][1000 genomes]
rs8080972	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9890700	1.00[CEU][hapmap]

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	chr17:17030400-17055800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr17:17030400-17059800	Strong transcription	Fetal Intestine Small	intestine
5	chr17:17030400-17079200	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr17:17030400-17089200	Strong transcription	Fetal Intestine Large	intestine
7	chr17:17031000-17078800	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr17:17031200-17057200	Strong transcription	Primary T cells from cord blood	blood
9	chr17:17031200-17067800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr17:17032000-17073800	Strong transcription	Fetal Lung	lung
11	chr17:17032200-17073600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr17:17034800-17072800	Strong transcription	Placenta Amnion	Placenta Amnion
13	chr17:17037200-17074200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:17038400-17093800	Strong transcription	Fetal Brain Female	brain
15	chr17:17038800-17058400	Weak transcription	Fetal Brain Male	brain
16	chr17:17043000-17055200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr17:17044200-17083600	Strong transcription	Thymus	Thymus
18	chr17:17045000-17088400	Strong transcription	Brain Germinal Matrix	brain
19	chr17:17045200-17055800	Strong transcription	Fetal Thymus	thymus
20	chr17:17045200-17071600	Strong transcription	Primary B cells from cord blood	blood
21	chr17:17045200-17075600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr17:17045200-17093800	Strong transcription	Fetal Stomach	stomach
23	chr17:17045600-17071000	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr17:17045600-17072800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr17:17045800-17059200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr17:17045800-17065600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr17:17046000-17059800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr17:17047400-17056600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr17:17047400-17059400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr17:17047600-17066200	Weak transcription	K562	blood
31	chr17:17048600-17055400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr17:17050400-17073800	Strong transcription	Fetal Muscle Leg	muscle
33	chr17:17050800-17057200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:17051000-17093200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr17:17051600-17055800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr17:17051800-17056400	Weak transcription	Fetal Kidney	kidney
37	chr17:17052400-17056800	Genic enhancers	HSMM	muscle
38	chr17:17053000-17078000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr17:17053200-17055200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr17:17053200-17055400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr17:17053200-17055600	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr17:17053200-17055600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr17:17053200-17055600	Strong transcription	Colonic Mucosa	Colon
44	chr17:17053200-17056400	Genic enhancers	HSMMtube	muscle
45	chr17:17053200-17056600	Genic enhancers	Left Ventricle	heart
46	chr17:17053200-17060600	Genic enhancers	NHEK	skin
47	chr17:17053200-17060800	Genic enhancers	HMEC	breast
48	chr17:17053200-17061000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr17:17053200-17067200	Strong transcription	HepG2	liver
50	chr17:17053200-17072600	Strong transcription	Pancreas	Pancrea

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