Variant report

Variant	rs17132663
Chromosome Location	chr7:2800641-2800642
allele	A/C
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	MAX	chr7:2800297-2800691	NB4	blood:	n/a	n/a
2	MAX	chr7:2799408-2800718	A549	lung:	n/a	chr7:2799609-2799618 chr7:2799768-2799777
3	CTCF	chr7:2799091-2801195	SK-N-SH	brain:	n/a	chr7:2799932-2799940 chr7:2800947-2800960 chr7:2800945-2800963 chr7:2799554-2799567
4	CTCF	chr7:2799553-2801013	A549	lung:	n/a	chr7:2799932-2799940 chr7:2800947-2800960 chr7:2800945-2800963 chr7:2799554-2799567
5	MAX	chr7:2799537-2800659	A549	lung:	n/a	chr7:2799609-2799618 chr7:2799768-2799777
6	MAX	chr7:2800047-2800684	MCF-7	breast:	n/a	n/a
7	MAX	chr7:2800291-2800660	A549	lung:	n/a	n/a
8	POLR2A	chr7:2799879-2800644	K562	blood:	n/a	n/a
9	KAP1	chr7:2800065-2800679	HEK293	kidney:	n/a	n/a
10	CBX3	chr7:2800169-2800649	K562	blood:	n/a	n/a
11	TCF12	chr7:2799392-2800672	A549	lung:	n/a	chr7:2800573-2800583 chr7:2799557-2799567 chr7:2799515-2799522
12	MAX	chr7:2800192-2800659	K562	blood:	n/a	n/a
13	RAD21	chr7:2799243-2801814	SK-N-SH	brain:	n/a	chr7:2799554-2799564 chr7:2799556-2799570
14	RAD21	chr7:2800043-2800734	MCF-7	breast:	n/a	n/a
15	POLR2A	chr7:2799566-2800824	PANC-1	pancreas:	n/a	n/a
16	CTCF	chr7:2800203-2800663	K562	blood:	n/a	n/a
17	RAD21	chr7:2800181-2800650	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr7:2800442-2800692	HepG2	liver:	n/a	n/a
19	SMARCB1	chr7:2799703-2800890	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:2797400..2800902-chr7:2803018..2805102,3	MCF-7	breast:

Variant related genes	Relation type
GNA12	TF binding region
AMZ1	TF binding region
ENSG00000174945	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10229834	1.00[JPT][hapmap]
rs10487576	0.92[EUR][1000 genomes]
rs10487577	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11765386	1.00[JPT][hapmap]
rs11765726	1.00[JPT][hapmap]
rs16870623	0.84[EUR][1000 genomes]
rs17132636	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132648	0.92[EUR][1000 genomes]
rs17132655	0.92[EUR][1000 genomes]
rs17132661	0.92[EUR][1000 genomes]
rs17132669	0.92[EUR][1000 genomes]
rs17132685	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17132693	1.00[CEU][hapmap];1.00[MEX][hapmap];0.84[EUR][1000 genomes]
rs17132706	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17132714	0.84[EUR][1000 genomes]
rs17132722	0.84[EUR][1000 genomes]
rs17132725	0.84[EUR][1000 genomes]
rs17150393	0.92[EUR][1000 genomes]
rs2013926	0.84[EUR][1000 genomes]
rs2013939	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs35341157	1.00[ASN][1000 genomes]
rs36113116	1.00[ASN][1000 genomes]
rs57065076	0.92[EUR][1000 genomes]
rs57344547	0.84[EUR][1000 genomes]
rs6461600	1.00[ASN][1000 genomes]
rs6962049	1.00[ASN][1000 genomes]
rs7783796	1.00[JPT][hapmap]
rs7790221	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7811164	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	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1024023	chr7:2726210-2829581	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv538653	chr7:2726210-2829581	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1032282	chr7:2789555-2820774	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2775400-2801200	Weak transcription	Primary T cells from cord blood	blood
2	chr7:2789200-2831600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr7:2790000-2830400	Weak transcription	Aorta	Aorta
4	chr7:2791200-2803400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:2796400-2801000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:2796400-2801600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:2796400-2803200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:2796400-2804000	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr7:2796800-2801000	Enhancers	Fetal Intestine Large	intestine
10	chr7:2796800-2802000	Enhancers	Adipose Nuclei	Adipose
11	chr7:2796800-2803600	Weak transcription	Primary B cells from cord blood	blood
12	chr7:2796800-2804400	Enhancers	Fetal Muscle Leg	muscle
13	chr7:2797000-2800800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr7:2797000-2800800	Enhancers	Primary hematopoietic stem cells	blood
15	chr7:2797000-2801000	Enhancers	Brain Germinal Matrix	brain
16	chr7:2797000-2801000	Enhancers	Fetal Thymus	thymus
17	chr7:2797000-2801800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:2797000-2803200	Enhancers	Right Ventricle	heart
19	chr7:2797000-2803800	Enhancers	Brain Cingulate Gyrus	brain
20	chr7:2797000-2805400	Enhancers	Placenta	Placenta
21	chr7:2797200-2801000	Enhancers	Small Intestine	intestine
22	chr7:2797400-2801200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:2797600-2800800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:2797600-2831200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:2797800-2801000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:2798000-2801200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:2798000-2801400	Enhancers	Psoas Muscle	Psoas
28	chr7:2798000-2803600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr7:2798000-2827400	Weak transcription	Thymus	Thymus
30	chr7:2798200-2803200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:2798400-2802000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:2798400-2802200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:2798400-2802200	Enhancers	Osteobl	bone
34	chr7:2798400-2803000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:2798600-2801000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr7:2798600-2801600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:2798600-2802000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:2799000-2801000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:2799000-2801600	Enhancers	Stomach Mucosa	stomach
40	chr7:2799000-2801800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr7:2799000-2803800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr7:2799200-2800800	Enhancers	GM12878-XiMat	blood
43	chr7:2799200-2801000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr7:2799200-2801000	Flanking Active TSS	HSMMtube	muscle
45	chr7:2799200-2801200	Enhancers	Fetal Brain Male	brain
46	chr7:2799200-2801200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr7:2799200-2801800	Enhancers	Lung	lung
48	chr7:2799200-2802200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:2799200-2802400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr7:2799200-2802400	Enhancers	Right Atrium	heart

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