Variant report

Variant	rs17132648
Chromosome Location	chr7:2797874-2797875
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:2770824..2773530-chr7:2796217..2798133,2	K562	blood:
2	chr7:2791509..2794960-chr7:2795693..2799845,4	MCF-7	breast:
3	chr7:2788053..2792290-chr7:2793052..2798708,8	K562	blood:
4	chr7:2777447..2779018-chr7:2797725..2799517,2	K562	blood:
5	chr7:2795602..2798449-chr7:2895895..2897670,2	MCF-7	breast:
6	chr7:2790104..2792525-chr7:2796033..2798907,2	K562	blood:
7	chr7:2766265..2768017-chr7:2797659..2799254,2	K562	blood:
8	chr7:2796622..2799533-chr7:2800643..2803648,3	K562	blood:
9	chr7:2773516..2775458-chr7:2797228..2798920,2	MCF-7	breast:
10	chr7:2795268..2798027-chr7:2834691..2837534,2	MCF-7	breast:
11	chr7:2796001..2798506-chr7:2858838..2860975,2	MCF-7	breast:
12	chr7:2755108..2759929-chr7:2796424..2799629,5	K562	blood:
13	chr7:2726208..2729496-chr7:2795829..2800431,6	MCF-7	breast:
14	chr7:2725821..2728860-chr7:2795958..2798636,3	MCF-7	breast:
15	chr7:2796509..2799619-chr7:2800643..2805239,7	K562	blood:
16	chr7:2755108..2758694-chr7:2796336..2799311,5	K562	blood:
17	chr7:2796044..2799256-chr7:2882341..2885825,4	K562	blood:
18	chr7:2793193..2795230-chr7:2796231..2799768,5	K562	blood:
19	chr7:2797400..2800902-chr7:2803018..2805102,3	MCF-7	breast:
20	chr7:2795660..2798637-chr7:2882064..2885301,4	MCF-7	breast:
21	chr7:2796032..2797990-chr7:2809805..2811746,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000174945	Chromatin interaction
ENSG00000146535	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10487576	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10487577	1.00[EUR][1000 genomes]
rs16870623	0.92[EUR][1000 genomes]
rs17132628	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17132636	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17132643	0.92[EUR][1000 genomes]
rs17132655	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132661	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132663	0.92[EUR][1000 genomes]
rs17132669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132685	0.92[EUR][1000 genomes]
rs17132693	0.92[EUR][1000 genomes]
rs17132706	0.92[EUR][1000 genomes]
rs17132714	0.92[EUR][1000 genomes]
rs17132722	0.92[EUR][1000 genomes]
rs17132725	0.92[EUR][1000 genomes]
rs17150393	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2013926	0.92[EUR][1000 genomes]
rs2013939	0.92[EUR][1000 genomes]
rs41308332	1.00[AMR][1000 genomes]
rs57065076	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57344547	0.92[EUR][1000 genomes]
rs59828898	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6978793	0.84[EUR][1000 genomes]
rs7790221	1.00[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	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:122 , 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	chr7:2783000-2798000	Weak transcription	Lung	lung
3	chr7:2789200-2831600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr7:2790000-2830400	Weak transcription	Aorta	Aorta
5	chr7:2790400-2799800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:2791200-2803400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:2791400-2800200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:2792200-2799400	Weak transcription	Gastric	stomach
9	chr7:2793400-2799200	Weak transcription	Fetal Brain Male	brain
10	chr7:2794800-2799000	Weak transcription	Fetal Brain Female	brain
11	chr7:2795400-2799400	Weak transcription	Liver	Liver
12	chr7:2796400-2798400	Enhancers	Esophagus	oesophagus
13	chr7:2796400-2798600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:2796400-2798800	Enhancers	Ovary	ovary
15	chr7:2796400-2798800	Enhancers	Right Atrium	heart
16	chr7:2796400-2800600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:2796400-2801000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr7:2796400-2801600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr7:2796400-2803200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr7:2796400-2804000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr7:2796600-2798000	Weak transcription	Dnd41	blood
22	chr7:2796600-2799800	Enhancers	Fetal Muscle Trunk	muscle
23	chr7:2796800-2798800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:2796800-2799600	Enhancers	Fetal Stomach	stomach
25	chr7:2796800-2799800	Enhancers	Fetal Heart	heart
26	chr7:2796800-2801000	Enhancers	Fetal Intestine Large	intestine
27	chr7:2796800-2802000	Enhancers	Adipose Nuclei	Adipose
28	chr7:2796800-2803600	Weak transcription	Primary B cells from cord blood	blood
29	chr7:2796800-2804400	Enhancers	Fetal Muscle Leg	muscle
30	chr7:2797000-2798000	Flanking Active TSS	HUVEC	blood vessel
31	chr7:2797000-2798200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr7:2797000-2798200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr7:2797000-2798400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr7:2797000-2798400	Genic enhancers	Fetal Intestine Small	intestine
35	chr7:2797000-2798400	Enhancers	Pancreas	Pancrea
36	chr7:2797000-2798400	Flanking Active TSS	Hela-S3	cervix
37	chr7:2797000-2798600	Enhancers	Stomach Mucosa	stomach
38	chr7:2797000-2798800	Enhancers	Left Ventricle	heart
39	chr7:2797000-2799200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:2797000-2799200	Enhancers	Spleen	Spleen
41	chr7:2797000-2799400	Enhancers	Duodenum Mucosa	Duodenum
42	chr7:2797000-2799800	Enhancers	Brain Angular Gyrus	brain
43	chr7:2797000-2799800	Enhancers	Brain Substantia Nigra	brain
44	chr7:2797000-2800200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr7:2797000-2800800	Enhancers	Primary T cells fromperipheralblood	blood
46	chr7:2797000-2800800	Enhancers	Primary hematopoietic stem cells	blood
47	chr7:2797000-2801000	Enhancers	Brain Germinal Matrix	brain
48	chr7:2797000-2801000	Enhancers	Fetal Thymus	thymus
49	chr7:2797000-2801800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:2797000-2803200	Enhancers	Right Ventricle	heart

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