Variant report

Variant	rs3744135
Chromosome Location	chr17:17050542-17050543
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	CTCF	chr17:17049844-17050675	A549	lung:	n/a	chr17:17050234-17050252 chr17:17050242-17050250 chr17:17050190-17050208 chr17:17050236-17050249 chr17:17050239-17050257 chr17:17050196-17050205 chr17:17050241-17050249
2	MYC	chr17:17049970-17050745	A549	lung:	n/a	chr17:17050448-17050457 chr17:17050211-17050221
3	MAX	chr17:17049852-17050583	A549	lung:	n/a	chr17:17050448-17050457 chr17:17050211-17050221
4	POLR2A	chr17:17050378-17050632	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr17:17049890-17050628	MCF-7	breast:	n/a	chr17:17050234-17050252 chr17:17050242-17050250 chr17:17050190-17050208 chr17:17050236-17050249 chr17:17050239-17050257 chr17:17050196-17050205 chr17:17050241-17050249
6	CTCF	chr17:17050440-17050590	SAEC	small airway:	n/a	n/a
7	MAX	chr17:17050008-17050554	H1-hESC	embryonic stem cell:	n/a	chr17:17050448-17050457 chr17:17050211-17050221
8	RAD21	chr17:17049940-17050558	MCF-7	breast:	n/a	chr17:17050238-17050252 chr17:17050232-17050251 chr17:17050509-17050519 chr17:17050236-17050246 chr17:17050235-17050248 chr17:17050188-17050207 chr17:17050234-17050246

No.	Distal block	Cell Line	Cell type
1	chr17:16913379..16913893-chr17:17049733..17050556,2	MCF-7	breast:
2	chr17:17050223..17052040-chr17:17108443..17111394,2	MCF-7	breast:
3	chr17:16900759..16901437-chr17:17049801..17050705,2	MCF-7	breast:
4	chr17:16904364..16905851-chr17:17049827..17050726,8	MCF-7	breast:

Variant related genes	Relation type
MPRIP	TF binding region
ENSG00000179598	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12601193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12601424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12601453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12602196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12602675	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes]
rs16961340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16961396	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2271521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3744124	0.85[CEU][hapmap]
rs3744126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3744142	0.86[CHB][hapmap]
rs3803762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3826304	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4078534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41319048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4316813	0.92[JPT][hapmap]
rs6502557	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs6502565	1.00[CEU][hapmap]
rs7222600	1.00[CEU][hapmap]
rs8064771	0.92[JPT][hapmap]
rs8069241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8072214	0.87[EUR][1000 genomes]
rs8076621	0.87[EUR][1000 genomes]
rs9908728	0.81[ASN][1000 genomes]
rs9909107	0.81[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	chr17:17030000-17052200	Strong transcription	Primary B cells from peripheral blood	blood
3	chr17:17030000-17088000	Strong transcription	Duodenum Mucosa	Duodenum
4	chr17:17030200-17051600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr17:17030200-17055000	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr17:17030400-17055800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr17:17030400-17059800	Strong transcription	Fetal Intestine Small	intestine
8	chr17:17030400-17079200	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr17:17030400-17089200	Strong transcription	Fetal Intestine Large	intestine
10	chr17:17030600-17051000	Strong transcription	Colonic Mucosa	Colon
11	chr17:17031000-17078800	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr17:17031200-17057200	Strong transcription	Primary T cells from cord blood	blood
13	chr17:17031200-17067800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr17:17031400-17051800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:17032000-17055000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr17:17032000-17073800	Strong transcription	Fetal Lung	lung
17	chr17:17032200-17051800	Strong transcription	Pancreas	Pancrea
18	chr17:17032200-17073600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr17:17032400-17051600	Strong transcription	Gastric	stomach
20	chr17:17033400-17051000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr17:17034800-17072800	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr17:17037200-17074200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:17038200-17051600	Strong transcription	Rectal Smooth Muscle	rectum
24	chr17:17038400-17093800	Strong transcription	Fetal Brain Female	brain
25	chr17:17038800-17058400	Weak transcription	Fetal Brain Male	brain
26	chr17:17039400-17051800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr17:17041400-17054200	Strong transcription	Hela-S3	cervix
28	chr17:17043000-17055200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr17:17043600-17051800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr17:17044000-17052800	Strong transcription	HSMMtube	muscle
31	chr17:17044200-17053400	Strong transcription	NHLF	lung
32	chr17:17044200-17083600	Strong transcription	Thymus	Thymus
33	chr17:17044400-17050600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:17044600-17052200	Weak transcription	HepG2	liver
35	chr17:17044600-17053800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr17:17044600-17054800	Strong transcription	Liver	Liver
37	chr17:17044800-17053400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:17044800-17054600	Strong transcription	Adipose Nuclei	Adipose
39	chr17:17045000-17054600	Strong transcription	Placenta	Placenta
40	chr17:17045000-17088400	Strong transcription	Brain Germinal Matrix	brain
41	chr17:17045200-17051000	Strong transcription	HUVEC	blood vessel
42	chr17:17045200-17051600	Strong transcription	Spleen	Spleen
43	chr17:17045200-17052000	Strong transcription	A549	lung
44	chr17:17045200-17052200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr17:17045200-17054000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr17:17045200-17055800	Strong transcription	Fetal Thymus	thymus
47	chr17:17045200-17071600	Strong transcription	Primary B cells from cord blood	blood
48	chr17:17045200-17075600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr17:17045200-17093800	Strong transcription	Fetal Stomach	stomach
50	chr17:17045400-17052200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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