Variant report

Variant	rs12532405
Chromosome Location	chr7:2914398-2914399
allele	C/G
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:2903257..2906477-chr7:2913665..2917327,3	K562	blood:
2	chr7:2902294..2906267-chr7:2911344..2915860,6	MCF-7	breast:
3	chr7:2765987..2767682-chr7:2913183..2915422,2	MCF-7	breast:
4	chr7:2902048..2907034-chr7:2912028..2916176,7	K562	blood:
5	chr7:2913908..2916162-chr7:3122594..3124369,2	MCF-7	breast:
6	chr7:2912265..2915088-chr7:2952209..2954245,2	K562	blood:
7	chr7:2907345..2909750-chr7:2913621..2916060,3	K562	blood:
8	chr7:2913414..2914953-chr7:3113951..3116529,2	MCF-7	breast:
9	chr7:2872743..2875246-chr7:2912589..2914983,2	MCF-7	breast:
10	chr7:2913057..2915172-chr7:3198284..3201204,2	MCF-7	breast:
11	chr7:2912665..2915404-chr7:2954032..2956544,2	MCF-7	breast:
12	chr7:2756357..2758230-chr7:2913588..2915207,2	K562	blood:
13	chr7:2899669..2908273-chr7:2908845..2917311,19	MCF-7	breast:
14	chr7:2913535..2915898-chr7:3339712..3342447,2	MCF-7	breast:
15	chr7:2912477..2915576-chr7:3192783..3198437,6	MCF-7	breast:
16	chr7:2913679..2915409-chr7:2948312..2950468,2	K562	blood:
17	chr7:2912356..2915024-chr7:3064651..3067046,2	MCF-7	breast:
18	chr7:2763542..2765998-chr7:2913273..2914846,2	MCF-7	breast:
19	chr7:2758388..2761774-chr7:2912256..2915270,3	K562	blood:
20	chr7:2794522..2796441-chr7:2912827..2915695,3	MCF-7	breast:
21	chr7:2812694..2814409-chr7:2912696..2915342,2	K562	blood:
22	chr7:2894850..2898157-chr7:2912459..2915037,3	MCF-7	breast:
23	chr7:2685231..2686928-chr7:2913627..2916260,2	MCF-7	breast:
24	chr7:2913187..2915316-chr7:2934287..2938323,4	MCF-7	breast:
25	chr7:2899154..2902095-chr7:2911868..2915224,3	MCF-7	breast:
26	chr7:2913332..2915358-chr7:2931713..2934636,3	MCF-7	breast:
27	chr7:2895086..2897225-chr7:2913092..2915364,2	MCF-7	breast:
28	chr7:2911909..2914760-chr7:3102455..3104497,2	MCF-7	breast:
29	chr7:2912621..2916379-chr7:3234649..3238028,4	MCF-7	breast:
30	chr7:2914055..2915867-chr7:3204506..3206043,2	MCF-7	breast:
31	chr7:2912750..2915143-chr7:3228683..3231010,3	MCF-7	breast:
32	chr7:2882613..2885726-chr7:2911759..2915688,5	MCF-7	breast:
33	chr7:2726315..2729215-chr7:2912425..2915656,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000146555	Chromatin interaction
ENSG00000236708	Chromatin interaction
ENSG00000146535	Chromatin interaction
ENSG00000174945	Chromatin interaction
ENSG00000231892	Chromatin interaction
ENSG00000217455	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12533845	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12533867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66975137	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6955710	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6956368	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6964874	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6972737	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6977940	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6979313	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73033490	0.81[AMR][1000 genomes]
rs73033494	0.83[AMR][1000 genomes]
rs73033497	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73033498	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73033501	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73035208	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73035210	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73035212	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73035216	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73035221	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73035223	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv887313	chr7:2875420-2927120	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv887314	chr7:2875420-2944187	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv887315	chr7:2895627-2935424	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1022938	chr7:2899514-3131881	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv526132	chr7:2904928-2968361	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv887316	chr7:2904928-2983520	Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv887317	chr7:2911972-2944187	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv971481	chr7:2913356-2925013	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2903600-2921600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:2903800-2914600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:2903800-2915800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:2903800-2919000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:2905200-2919000	Weak transcription	Fetal Brain Male	brain
6	chr7:2910200-2915600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:2910200-2915800	Weak transcription	Pancreas	Pancrea
8	chr7:2910400-2914800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:2910600-2915600	Weak transcription	Brain Germinal Matrix	brain
10	chr7:2910600-2918800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr7:2910800-2918800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:2910800-2919000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:2911600-2917800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:2911600-2918600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:2911800-2917200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr7:2911800-2917800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr7:2912000-2914400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr7:2912000-2915600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:2912400-2915800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:2912600-2915200	Enhancers	Fetal Thymus	thymus
21	chr7:2912600-2919800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:2912800-2915000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:2912800-2916000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:2912800-2916400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:2912800-2916400	Enhancers	NHEK	skin
26	chr7:2913000-2914800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:2913000-2918800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:2913200-2920800	Weak transcription	Right Atrium	heart
29	chr7:2913400-2914800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:2913400-2918600	Weak transcription	Spleen	Spleen
31	chr7:2913600-2914600	Weak transcription	HMEC	breast
32	chr7:2913600-2914600	Weak transcription	NH-A	brain
33	chr7:2913600-2915400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:2913600-2915400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:2913600-2915600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:2913600-2917800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr7:2913600-2919000	Weak transcription	Fetal Kidney	kidney
38	chr7:2913800-2914600	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr7:2913800-2915400	Weak transcription	Osteobl	bone
40	chr7:2913800-2915600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:2913800-2915600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:2914000-2915400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr7:2914000-2915800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:2914200-2915000	Enhancers	Primary T cells from cord blood	blood
45	chr7:2914200-2915400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:2914200-2915400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:2914200-2915400	Weak transcription	HSMM	muscle
48	chr7:2914200-2915600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:2914200-2915600	Weak transcription	Fetal Muscle Leg	muscle
50	chr7:2914200-2916200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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